Anti-M isoimmunization...fetal hydrops OR NOT

Had a NOB, G2P1, pt come in with routine NOB lab evaluation results showing pt with antibodies to Anti-M. Pt had no previous history or knowledge about having Anti-M. Of course my great teaching preceptor gave me "homework" to research what Anti-M was all about:

Anti-M antibodies are generally "naturally occurring" which means that they develop as the result of exposure to M-antigens found in the environment - usually expressed on bacteria or viruses.

In most cases the only type of antibodies that individuals develop to these types of antigens are of the IgM subclass. IgM antibodies are very large and cannot cross the placenta and cause any problems for the baby. Occasionally (as can also occur with the A and B major blood group antigens), an individual will develop IgG antibodies to the M-antigen. IgG antibodies CAN cross the placenta and, indeed, are actively concentrated on the fetal side. Usually, these IgG antibodies are antibodies to a wide variety of things that are “foreign” to our bodies that we have been exposed to during our lifetimes and they provide protection for the baby against common environmental pathogens (e.g., viruses and bacteria) for the first 4-6 months of the baby's life following birth.

However, if a pregnant woman has IgG anti-M antibodies and the baby happens to have M antigens on its red blood cells, the antibodies can attach to the red blood cells and mediate their destruction by the baby's own immune system, ultimately resulting in fetal anemia and, in the worst case scenario, fetal hydrops and even death (as can occur with "Rh-disease"). This is uncommon with anti-M antibodies, but has been described on numerous occasions in published literature. As with "Rh-disease", the risk for fetal complications generally increases with the level of the IgG anti-M antibody titers the pregnant woman has.

The first steps are to find out if the pregnant woman has IgG antibodies and if her partner is M-antigen positive on his red blood cells. If he is not, then their babies cannot be affected. If he is M-antigen positive, and the pregnant woman has IgG antibodies, then her antibody levels (titers) should be ascertained and followed serially during the pregnancy. Severe fetal anemia usually is a risk when high titer anti-M is present as IgG antibodies. High/increasing titers would make this a referral/transfer of pregnant pt to high risk OB for further management.

If the IgG anti-M titers are 32 or higher, then the baby should be monitored serially for evidence of significant fetal anemia (just like we do with Rh-isoimmunization) by performing peak systolic velocity (PSV) measurements on the baby's middle cerebral artery using Doppler Flow Velocimetry. Bilirubin studies are also performed through amniocentesis or PUBS (percutaneous umbilical blood sampling), to detect increased bilirubin levels. These levels are plotted on a Lily Curve to determine severity of disease and a plan of action. EGA less than 28 weeks with NO sign of fetal hydrops-can give IVIG for 5 days and repeat in 15-21 days. For MILD/No disease evidence-baby goes to term and induction is performed. For INTERMEDIATE disease-baby goes to 36-38 weeks and induction is performed. For SEVERE disease-depending on EGA, baby is transfused OR delivered ASAP.

If the baby does develop significant anemia, then it should be either transfused with M-negative blood or delivered, depending on the severity of the anemia and the gestational age at which the baby gets in trouble. It would be a good idea for the couple to discuss their situation with a specialist in Maternal-Fetal Medicine before they conceive again. Future subsequent children can be increasingly affected by hemolytic disease of the newborn.

My/our pt was counseled on the above information and educated about the need to follow serial IgG ant-M titers through her pregnancy.

link more Info here about anti-M at p. 556...

EDS & pregnancy

21 y/o G1P0 at gest week 26 c/o constant and intense lower abdominal pain, a feeling "pulling" pressure bilaterally and fatigue. As we discussed what round ligament pains are and why she may feel this, hers reportedly are "more severe." It was later discovered on history review that she had Ehlers Danlos Syndrome (EDS).

One source defines EDS as "an inherited genetic disorder that affects the body's connective tissues and prevents the body from functioning in the way that it should. Symptoms of EDS include:joints that move beyond the normal range of motion, which can lead to dislocations and chronic pain, extremely delicate skin that is susceptible to injury, overly stretchy skin, which makes the skin vulnerable to damage and exposes a person's internal organs to harm. EDS abnormalities such as these are caused by faulty collagen, which is the substance that gives strength and elasticity to connective tissues in the skin, joints and blood vessel walls."*There are 6 types or grades of EDS, one of the worst being Vascular EDS for obvious reasons.

With this and such patients in pregnancy, there is an increased risk for premature delivery, excessive bleeding (during or post c-section and vaginal delivery w/ tearing), miscarriage and other maternal complications. In utero, the vascular EDS may lead to placental rupture placing the fetus in demise. Excessive skin stretching (doughy), malleable bone changes and others can place the patient/client at risk for falls which can lead to a "bleeding events" (connective tissue disorder, as well).

Genetic counseling with a geneticist / expert genetic counselor (like Dr. Seibert......) during preconception, pregnancy and in the PP period is vital as there is no cure for this. The risk versus benefit of pregnancy and the impact on both mom and baby (medical/surgical complications, risk of genetic transmission to baby, lifestyle adjustments etc) should be discussed. Management of symptoms includes pain medications, warm compresses and physical therapy, referral for interdisciplinary/ancillary services (SW, MH, OT, Heme).

I found this very interesting. A "live" one!

* How stuff works. com

Vag Delivery Plans foiled by a .........Fibroid

My preceptory and I saw a 34 year old G2 P-O A-1, 36 weeker during a routine OB appointment. This patient had a large fibroid (confirmed via U/S) located in the lower uterine segment, in lay terms-very near her cervix. It was interesting to learn more about fibroids and the problems they can potentially cause throughout a pregnancy during this patient's visit. The patient offered no complaints with the exception of feeling minor lower abdominal pain, most likely attributed to round ligament stretching. She confirmed fetal movement and an ultrasound revealed normal fetal growth for gestational age. Although she had hoped for a vaginal delivery, my preceptor explained the risks that this fibroid posed to such a delivery method. A vag-delivery could be complicated by shoulder dystocia, labor dystocia, and postpartum hemorrhage. My preceptor then proceeded to explain to the patient that a VBAC incision may not be possible because the fibroid is located where a low transverse incision is usually performed. The only, and perhaps the best option available to this patient involved making a vertical incision through the contractile portion of the uterus. However, this option is not without risk; for if the body of the uterus cannot contract properly, the risk for post-partum hemorrhage increases. The patient agreed to a c-section (vertical incision) and was aware of the reasons why this method was best for her and her baby. She did ask why the fibroid could not be conveniently removed after the c-section-to this inquiry my preceptor responded that performing a myomectomy after a c-section can really increases the risk for massive hemorrhage since a gravida uterus is highly vascular. At the end of the visit, the patient seemed very satisfied with the the information that was provided to her. I could tell that she may have been feeling a little down after learning that a vag delivery was not the best option. But as she was leaving she mentioned that whatever method is best for her baby is the route she chooses.

greg b

Bonding on the NOB

For those of you who know me, I'm pretty chatty. I tend to wear my emotions on my sleeves and I love to talk about babies. So you can imagine how exciting a new OB appt. is for me; and usually for the pt. I learned a tough lesson a few days ago on developing my style and relationship w/a patient, particularly during a new OB appt. (where I am meeting a new patient and have yet to establish a viable pregnancy). I performed the dating US on a G1P0 with her partner happily looking on. Thank God my preceptor was standing right next to me and immediately took over when we quickly realized there was no fetal heart movements. The way she handled this case of a missed abortion was compassionate. She told the couple the facts: there was no heartbeat and the baby had stopped growing sometime in the last week (by US, the fetus measured 9 weeks, 4 days and based on her LMP she would have been at 10 weeks). She presented her with all the options: do nothing; serial HCG and a repeat US in three days to confirm that there is no heartbeat- since we could be off on the due dates and maybe this was a 7 week pregnancy (highly doubtful); or D&C. Most importantly, she told them there was nothing they had done to cause this and that it happened in 20% of pregnancies. They chose to do the serum testing/repeat US. My preceptor said she did it so they could have time to process this event- it was the humane and right thing to do. It also taught me the value of not doing some of the education/bonding upfront, but waiting till the exam was finished. What if I had already started talking to her about whether she'd breastfeed the baby, or talked to her about what whether they wanted a boy or girl (things I have done on a NOB visit). You have to draw a fine line at some point- and this is unnatural to me. I don't like being cold and matter of fact: I always said that's why I became a nurse, and not a physician. But as a provider, this would not have been a therapeutic relationship at this juncture. Later on, as they'd become a ROB pt., then we could "grieve" together, as we'd have established a relationship over time. I know this post is all kind of jumbled, but I thank you for letting me share my thoughts on what was a difficult visit for me. Luckily I amazingly held it together during the visit, but it made me really assess how I need to approach the NOB patients from now on.

Where are the PMHNPs when you need them!!

A 25 year old dependent wife, G5 P1 at 17+6 EGA presents to clinic for “routine” OB care. Patient was obviously been crying prior to my entrance into the room. She had a somewhat flat affect, refused to make eye contact, was disheveled and answered questions in single syllables only. After talking to the patient while measuring fundal height and listening for fetal heart tones, patient still denied being upset or having any symptoms of depression. Patient had little interest in any information presented to her other than lab results for STDs, but finally asked if it was possible to take psych medications while pregnant. When asked why she thought she needed psych medications, she said that she needed medication to help her “chill out” because she was afraid she was going to hurt someone. Patient stated that she was under the care of a civilian mental health provider that she had tried to contact unsuccessfully (provider was off today). Today she reported overwhelming homicidal thoughts increasing over the last two days toward her spouse (currently deployed) and his lover (in the local area). Patient stated that this amount of rage scared her and that she did not feel safe being in proximity to this woman since she had a plan for homicide (which she would not share) It was obvious that the patient needed a mental health evaluation, but the question was how to make it happen both safely and expeditiously.

There are mental health services available in the clinic, but my preceptor was told that the patient needed to be evaluated by the on-call psych resident in the ED at the Portsmouth hospital. The patient refused transport via ambulance because she had to pick up her 5 year old from school and had no friends in the area to assist her. Clinic staff was adamant that we could not force someone to receive care (or transport). During the course of her trips to pharmacy and lab (for OB issues) while we were trying to figure out what to do with her, she became increasingly upset. Mental health sent several people to the pharmacy waiting room (for what purpose I am not really sure – she was cooperative to this point and did not present an immediate threat to herself or anyone near her). Upon seeing this large group of people coming toward her, the patient refused all care after that, refused to return to the OB clinic, and denied needing any help. She was allowed to leave the clinic with no plan for follow-up, no counseling, and no plan for supervision of any kind.

I realize that we cannot force dependents to receive care, but I am certain that there is a caveat of some sort when safety is an issue. Also, this patient was not refusing care, she was refusing transport to the hospital via ambulance because of child care issues. I got the impression that if we could have worked that out, she would have gladly gone to the ED…she came in asking for help!

This case reminded me how important it is to know the resources in your area as well as the benefit of having good relationships and POCs for each of the tenant commands that you serve.

Postpartum perineal lacerations

29 y/o G2P2 presents for 6 week postpartum visit s/p forceps assisted vaginal delivery resulting in a 4th degree perineal laceration. Review of systems remarkable for persistent perineal pain relieved with Motrin, flatus incontinence, occasional constipation, and difficulty cleaning stool from rectum after defecating. Denies urinary incontinence or urgency. Pelvic exam remarkable for healing perineal wound right of midline with sutures coming out without signs of infection. Anal sphincter had good tone, vaginal sphincter tone diminished. She also had a small posterior rectocele and anterior cystocele. Rest of the exam was nl. These were obvious signs of pelvic floor disruption with possible anal sphincter problems. As far as management, the provider was not too concerned, but I did recommend kegel exercises. I also thought we could have done more for her. The literature is unclear about how aggressive early management should be or when it should be initiated, when there are signs of pelvic floor disruption. Surgery is certainly not an option unless symptoms are severe and she is done childbearing, but perhaps this patient may have been a candidate for pelvic floor physical therapy. 3rd and 4th degree perineal lacerations or episiotomies can have significant long-term consequences and the sequela (constipation, anal sphincter dysfunction, pelvic organ prolapse, urinary incontinence, perineal pain, rectovaginal fistulas) is what we are most likely to see in our practices as FNPs.

Wait up! I bearly touched her!

I recently saw a 19 y/o G1P0 pt at 38 weeks, Kay, with a history of Hyperthyroidism and DM in the L&D unit. This was not readily apparent to me at the time, while thumbing through tones of info in her charts. She came in through triage for “frequent and painful, unrelenting contractions.” After further assessment with a pelvic, nitrazine paper and NST, she was admitted. Upon insertion of an IV, she near flew off the bed, screaming, and cursing up a storm. The nurse thought this was strange and looked closely at her charts. Kay had a history of Bipolar disorder, hence the overly exaggerated response to the IV insertion, I learnt.
Women with chronic mental health disorders such as Bipolar , can and will get pregnant, some planned, many may not be. It is important to screen and ask women about mental health history, the use of prescribed medication for the illness and ask “are you still taking your medications, if not, why?” Teaching and counseling comes into play her because some women may choose to stop taking these meds once they find they are pregnant.
According to the National Alliance on Mental Illness (NAMI), Lithium and first generation antipsychotics like Haldol are still safe to use in pregnancy (Category D) if deemed necessary. Concerns about relapse, maternal safety, hydration status (if meds are taken) and fetal well-being present an opportunity to educate, reeducate, and/or refer. Preconception counseling and the impact of these disorders during and after pregnancy (beacuse of breast feeding) is vital.

Quad/Penta screen

18 y/o Hispanic female, G1P0, 19 weeks GA. She was advised via telephone of results of penta screen for NTD, Trisomy 18, Trisomy 21 screening. She presents in clinic with her boyfriend, mother, and sister--all in acute distress. Mother of patient does most of the talking. She reports that the patient was advised by a nurse that the test was screened positive for Downs and Edwards syndromes. They are here to get more information and to find out what to do next.
The NP seeing the family explains that the information they have is incorrect. She explains that the screen came back positive for possible neural tube defect, but tests for Trisomy 18 and 21 were negative. She discussed the chances that this pregnancy/fetus might be affected by neural tube problems, she explains what the range of possible malformations are, and further explains what happens next. The information includes the chances that this is a false positive, that this is a screening only. The patient's risk factors are also included in partial reassurance. The family, while still anxious, is able to process the information given, clearly able to state the next course of action, and verbalize understanding of the condition that the screening test indicated.
In summary: The patient was given the wrong test results. She either was not given sufficient counseling prior to testing or was not in complete understanding of the information given. This may have been a function of either her age, maturity, and the care and preparation of the provider doing the consent prior to testing. Reporting of test results of this nature is best handled in person, not over the phone. Having support persons available was helpful.
I chose this case because it was like watching the Hispanic vesion of my daughter and I, and it really showed me that more care and sensitivity needs to be shown in ordering, consenting, and reporting these tests. No matter how careful the person is reporting these results, all the family hears is that something is wrong with their baby. It took 20 minutes just to calm this family down enough for them to be able to truly process the information that was being presented by the NP in person, in a very calm, very clear, very concise manner.

Membrane Sweeping

24 yo G2/P1 w/post history of post date pregnancy and macrosomian 37. 5 at time of this vist. Membrane sweeping suggested/performed per CNM:

“DOD/VA Clinical Guideline for Pregnancy Management” recomends offering membrane sweeping to all pregnant women at each vist beginning at 38 weeks. The procedure is comprised or using a gloved finger to separate the membrane from the inside of the uterus, which causes a release of prostaglandins and is believed to facilitate uterine contraction. Membrane sweeping may help to avoid post date pregnancy complications including post partum hemorrhage and shoulder dystocia. Additionally patients may be less likely to require induction of labor or caesarian section.
A possible disadvantage is that bacteria may translocated into the uterus. However, studies focusing on GBS have not shown this to be the case. Note that the DOD guideline indicates that there is not sufficient evidence to encourage or discourage the practice in women who are GBS positive. Some women find the practice quite painful. Additional literature reviews indicate membrane stripping is relatively safe, and indicate that there are fewer post date pregnancies when the practice is applied; although clinical significance of the difference not demonstrated. Attitudes among the group of mid-wives at Ft Benning/MACH varies, with one individual who strongly recommends the practice, one who offers membrane stripping but is somewhat less aggressive with her application and a third who falls somewhere between the other two in her recommendations and practice.

BY Alex G. Reyes

36 year old G4P4 dependent female spouse from a Catholic family delivered a Down's
Syndrome baby 6 weeks ago; here for follow- up. Mother explained to me that she did the sequential test part 1 at 11 weeks and tested positive for being high risk. She was given several
level 2 ultrasounds throughout the pregnancy and was told everytime that there was no indication for Down's. Unfortunetly, when the baby was born it was obvious that the child had Down's Syndrome. The mother was very distressed and was crying throughout the visit, I'm glad my preceptor was there to manage the visit because I didn't know what to say. So, 2 lessons where learned during this visit; the first: kids are born with Down's eventhough we have all these fancy test and the second: know what to say when a mother starts crying and telling you that her kid has Down's...

Perfect protection isn't foolproof

For most women, perfect contraceptive protection is protection that you don’t have to “manage or even think about”. One of the more popular methods of worry free birth control is the Mirena intrauterine device. The Mirena is an intrauterine contraceptive that delivers small amounts of levonorgestrel directly to the uterus. This device is made of soft, flexible plastic that can be placed by your healthcare provider during an office visit. Mirena is birth control that can last up to 5 years, and is also approved to treat heavy periods in women who choose intrauterine contraception. The only maintenance required with this method is checking the threads once a month, if you experience problems finding them back-up contraception is suggested. In the uncommon event you get pregnant while using Mirena, seek emergency care because pregnancy with an intrauterine device can be life threatening and may result in loss of pregnancy or fertility.

I had the opportunity to attend the delivery of a 28 year old G2P1 with a complicated pregnancy due to the findings of the Mirena device as well as an intrauterine pregnancy at 10 weeks gestation. The patient had the device in place for less than one year but assumed that the device had been expelled when her pregnancy test was positive. In serial ultrasounds the device was displaced but present in the uterus. She was closely managed and followed as a complicated ob patient without surgical intervention under the pretense to watch and wait to see how the pregnancy would progress. In the course of the pregnancy the patient did not undergo any significant events and was able to labor and deliver vaginally. During the birthing process there was a period in which forceps or vacuum extraction was considered but was not necessary. The patient did have an uneventful vaginal delivery but the IUD was not noted or recovered in placental contents nor on exam, however there was greater than average degree of post partum bleeding noted. This case was highly unusual and the patient will need to be followed up to determine if indeed the uterus is void of the device.

False Alarm

A 26 year old caucasian female G1P0 came to the L&D deck triage area fearing that her "water had broken." The patient was 39wks and 2days with an otherwise normal pregnancy and no noted abnormalities during her regular OB visits. The patient stated that she had soaked two "pads" in the last 6 hours with a thin whitish/watery fluid. The Mother denied any vaginal bleeding, contractions/abdominal/pelvic pain. A fetal fibronectin drawn several days prior at another OB visit was negative. An NST was reactive with moderate variability, and no decelerations. Fetal HR was at 145 bpm. Movement was noted from the fetus during this assessment. The mother stated that her baby was moving every hour and that there was no difference in her unborn son's activity level. Examination of the vaginal canal and cerivx with the aid of a speculum did not reveal any pooling liquid. A copious amount of cervical mucuous was seen in the vaginal canal, cervix, and the external genitalia. The patient was 2cm dilated and 30% effaced. Nitrazine paper was negative and no ferning was seen from fluid collected off the cervix. The patient was instructed to keep her appointment the following week for an additional NST and AFI with her midwife provider and to call/come back to the L&D triage deck if any other concerning signs/symptoms occur.

23 Year old G2P1A0 with Von Willebrand's disease

I was involved in the labor and delivery phase of this patient's care. She was a pleasant, 23 year old caucasian who had one other pregnancy tha was crried to term. Because of her condition, Von Willebrand's factor was available at the bedside. The patiend elected to have natural childbirth as her first pregnancy was, by her own report, relatively easy. Once she was fully dilated an effaced, she delivered an 8lb 4 oz baby girl after 3 pushes. Amazingly, she did not have any tearing and the bleeding was minimal. What was most interesting to me was the midwives lack of knowledge of Von Willdebrand's disease (which I "educated" them about). I am inclined to think that they had to have learned about it sometime in school, but simply "brain dumped" it due to lack of exposure to the disease.

OB post_Delgado

25yo G1P0 presents for TOB visit, currently around 20wks gestation. The issue with this case was how to figure out her EDC. There was not an EDC noted in her medical record, the patient was not really sure when she had her LMP. When we tried to calculate the EDC by using her best estimate date; there was a 5-day difference from when it was calculated using Naegle. She didn’t get an US until she was about 16 wks; and the EDC listed on the US report was 7 days off. So which EDC should you use? My preceptor decided on using the EDC obtained from the wheel. There was no real rhyme or reason why she chose that EDC. On top of that she continued to smoke a pack a day and her husband was due to get a dishonorable discharge from the Air Force within the next month. So she would be without healthcare. Unfortunately during my first week of OB/GYN clinical, it seems that this kind of drama is all too common. The challenge that we have is how to manage patients with personal issues that make it difficulty to provide optimal healthcare.

Anembryonic Demise

38yo. G2P1 AD female scheduled to PCS to Japan within the month. Seen for new OB appt and scheduled to receive physical same day as appt. Due to administrative errors, she had to be rescheduled for physical and dating US two days later (Friday). During US, found to have amniotic sac (consistent with 10-week gestational age) without fetal mass/cells present. Given Cytotec to facilitate clearing of POC with no result (minimal cramping, bleeding consistent with normal period). Seen in ACC for follow-up on Monday for verification of expulsion of POC via US. Amniotic sac still seen intact on vaginal US. Pt given options for removal and chose in-clinic Handi-Vac due to timing of PCS. Handi-Vac procedure completed x1 but vaginal US revealed amniotic sac still intact. With pt consent, 2nd attempt with Handi-Vac performed guided by abd US with positive result. POC retrieved and pt bled appropriately. Given methergine IM x1 with follow-on 2 doses to be picked up at pharmacy. Given 30mg Toradol IM pre-procedure and Epi pudundal block, pt tolerated procedure well.

Measure twice, chart once

28 y/o previous mother of three full term healthy babies. African American. Genetic testing done in 1st and 2nd trimester and all was negative. She had been having routine care and had her 20 week ultrasound done. Her fundal measurement was tracking along and at 28 weeks it was 27. then at 32 weeks it was 30, 36 weeks 35, 38 weeks 35, 39 weeks 33. I had measured her and was sure I was wrong. Measured again and then had the preceptor measure. Sure enough we were right. She had crossed over the 3 deviation mark and needed to be seen. We sent her up to L&D where she was admitted. They found decreased amniotic fluid and her cervix was dilated at 1 cm. They were going to induce labor since she was at 39 weeks. The warning signs were there early and were trending downward. The baby was born healthy, but the potential for a bad outcome was definitely there. So remember measure twice, chart once.

Hypokalemia/hypomagnesemia might be Gittelman's Syndrome

27y/o Caucasian female ADAF for 30 wk ROB G2 P1. Hx pre-eclampsia, bedrest and delivery baby girl at 35wks wt 5lbs 6 years ago. Current pregnancy was progressing normally except hypokalemic on oral replacement therapy and dietary changes. Today she presents with 15lb weight gain since last ROB visit, elevated BP 150s/110s but HR at her baseline (not tachycardic/still working on the floor and short staffed prior to appt) and complaints of heart burn. BP repeat manual no real improvement; fundal height consistent with dates, FHTs 150s, good fetal movement but patient reports some DOE. CMP ordered to f/u hypokalemia. Results showed continued hypokalemia (slightly improved) and new hypomagnesemia. WHNP consulted with OB MD and patient to start po magnesium supplementation slo-mag which was not available at MTF so civilian prescription given to patient. Patient now considered high risk OB and all future care must be scheduled with MD. Patient reported to provider later in the day that SOB worsening. CXR ordered and results WNL. OB MD consulted with MFM at another facility (not NNMC) and he recommended referral to MFM but order further blood (CBC, full chem. panel, LFTs) and urine electrolytes prior to MFM appt. Her urine electrolytes returned abnormal. Later that week patient had appt with MFM and was placed on bed rest at home with frequent provider appts. Patient’s previous OB records not available (civilian provider) and patient had consulted with OB provider prior to attempting this pregnancy because she was concerned pre-eclampsia and preterm delivery could occur again. She was told there would be a chance but not likely. MFM’s differential diagnoses include Gittelman’s syndrome and nephrogenic diabetes insipidus. Needless to say this patient's stress level was elevated from this point forward and she was very concerned about the well being of her unborn child. Luckily she has a strong support network but her family does not live nearby and she now had to drive much further for her OB care. I do not know if she has received a definitive diagnosis yet.

Gittelman’s syndrome (Orphanet Journal of Rare Diseases, 2008)

Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia.

GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC), are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified.

Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria). Bartter syndrome (especially type III) is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS is technically feasible but not advised because of the good prognosis in the majority of patients.

Most asymptomatic patients with GS remain untreated and undergo ambulatory monitoring, once a year, generally by nephrologists. Lifelong supplementation of magnesium (magnesium-oxide and magnesium-sulfate) is recommended. Cardiac work-up should be offered to screen for risk factors of cardiac arrhythmias. All GS patients are encouraged to maintain a high-sodium and high potassium diet. In general, the long-term prognosis of GS is excellent.

http://www.ojrd.com/content/3/1/22 (longer more detailed version available at this website)

Nephrogenic diabetes insipidus (Nephrogenic diabetes insipidus foundation website, 2010) occurs when the kidney tubules do not respond to a chemical in the body called antidiuretic hormone (ADHADH), also called vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. This makes you produce large amounts of urine. Nephrogenic diabetes insipidus is rare. Congenital diabetes insipidus is present at birth as a result of an inherited defect that usually affects men, although women can pass the gene on to their children.

Most commonly, nephrogenic diabetes insipidus develops because of other reasons. This is called an acquired disorder. Factors that can trigger the acquired form of this condition include:

· Blockage in the urinary tract

· High calcium levels

· Low potassium levels

· Use of certain drugs (lithium, demeclocycline, amphotericin B)

http://www.ndif.org/public/pages/1-Introduction (more detailed information)

Weight gain during pregnancy

This blog is more in relation to a trend that I noticed during my OB rotation. I got to spend one day in L&D during my rotation, and that day I got to assist the midwife with a vaginal delivery. It was surprising that this mom was able to push this baby out on her own, since the baby weighed nearly 11 pounds. After the delivery I was talking to the midwife who told me that this woman had gained 100 pounds during her pregnancy. I nearly fell out of my chair! As I continued through my OB rotation, I began noticing that many of the women we saw were far above their optimal weight gain for their pregnancy. I would guess that nearly 50% of our patients were above their recommended weight gain. All of the preceptors that I worked with talked with their patients about their recommended weight gain, but it was almost like a side note. I didn't hear anyone talk about the possible side effects of gaining too much weight during pregnancy or having an 11 pound baby. I know obesity is a problem in our country and it will no doubt seep into the obstetrics world as well. But I truly wonder if these families know the risk they are putting themselves and their babies in. This is definitely a tough issue, because there is no easy way to talk with patients about being overweight. However, I feel like we are doing these patients a disservice if we don't address it.

Bartholins Cyst management and Pregnancy

Jane was a 21 y/o BF G3P2A0 family member who presented to L&D in obvious discomfort. She was 37+5d along in her pregnancy and had a C/C of point tenderness along her left labial fold x 3-4 days that was making it difficult to walk around without pain. Pain level was 7/10 with ambulation. She showed minimal improvement with cool/warm compress to area and percocet use. She was also hesitant to use percocet. She had significant pain with intercourse, denied bleeding, any leaking of fluid or changes in vaginal discharge. +PMHx of STI(Chlamydia), Txed as part of prenatal W/U. Upon pelvic evaluation a large 4 X 3 cm fluctuant cystic mass was noted along the left labia majora border of the vulva consistent with a Bartholins cyst. Bartholins glands allow small amounts of mucous to lubricate the external genitalia. They can be the result of a functional block, infection (STI) or other bacteria, or from localized edema. It was very tender to palpation. The cyst was not actively draining and was erythematous. Jane's V/S were stable, Tmax 99. The CNM I was working with consulted with OB physician on her management. Upon review of her condition the Obstetrician decided to send her home without I&D and have her continue sitz baths, percocet for pain, cool/warm compresses to area for pain relief. Increase rest, but activity was OK as tolerated. No ABX initiated. F/U in clinic in 48hrs or prn.
Physician did not want to perform any elective procedure while she was pregnant. Patient was sent home with discharge instructions. Jane was one of the CNM's centering patients so they had a great rapport. She was in a great deal of discomfort that I thought could be remedied by small I&D and placement of word catheter to allow for controlled drainage of fluid. OB did not want to have the cyst draining with the possibility of the baby being delivered. Highly likely cyst would start to spontaneously start to drain on its own. On the other hand I did not want to see cyst burst and rupture during childbirth while the baby was coming out of birth canal. Risk for bleeding is also increased due to pregnancy. Infection may be a concern for pre-term labor, although she was already 37 weeks. Neither approach is wrong, judgement call.

OB - Needed more info and treatment

Ms. P is 19 weeks pregnant. Her VS are 105/67, 89, 99.1. She has a history of gonorrhea in February of this year when she went for her PAP. She was treated with “a shot and some pills.” On May 8 at 14 weeks, she began to bleed heavily, saturating through four large pads during the day and passing a clot the size of a golf ball. She also had some cramping. She went to the Emergency Room where she was diagnosed via ultrasound with complete placenta previa and was told to follow up with her OB. She went to her OB but by that time, the bleeding and cramping had stopped. She continued on full duty, doing PT and road marches because she was not given a temporary profile.

Today, Ms. P presents with severe cramping that feel like spasms; pain level 8/10; no spotting or bleeding. She has not eaten for 36 hours (taking a little water only) and feels lightheaded. A vaginal ultrasound indicates that the placenta is no longer sitting on the cervix. My preceptor explained that as the uterus grew, the placenta moved up and away from the cervix. The cervix was intact with no dilation or thinning. FHR was 150 and there was a lot of fetal movement. The patient was told that the baby was developing normally, the placenta previa had “resolved,” and she had no restrictions.

I would like to have seen Ms. P given an explanation for the pain and spasms. I asked my preceptor if it could be round ligament pain; he stated it probably was, but this was not explained to the patient. She was also not treated for her nausea and lightheadedness. It was very hot in North Carolina during this period of time; dehydration was an issue. I also thought that because Ms. P had a problem with placenta previa earlier in the pregnancy and she is now having nausea, she should have been given a temporary profile not to run or do road marches for the remainder of her pregnancy.

My preceptor surprised me with this case. He is a fertility doctor and is very compassionate with his patients. He is very generous with con leave and profiles. I expected more aggressive treatment.

OB ISSUE-Susan Frisbie-posted 13 June 2010

Twenty-eight year old, G1P1001, Caucasian female presents for six week postpartum appointment. She is active duty and part of a dual military couple. She is also active in basketball, running and enjoys most physical fitness activities. One day while playing basketball (prior to knowing she was pregnant) she fell and hit her head and suffered a brief loss of consciousness. She was taken to the emergency room and an MRI was done. The MRI revealed lesions consistent with Multiple Sclerosis. Her and her husband had been trying to conceive and she found out she was pregnant two weeks after the MRI. Her brother has Duchenne Muscular Dystrophy and she is also a carrier. Husband has no familial genetic history and is not a carrier for Muscular Dystrophy. Her prenatal course was unremarkable and she had an uneventful SVD. She was currently breastfeeding at the postpartum appointment but stated she has to stop now and start back on Interferon. While off the Interferon during pregnancy she remained symptom free. Her depression scale was an 8 but she was very open about her disease and does her best to not let her disease bring her down. She was very proud to share she took her Navy PRT 7 days after delivery. I ask about hindsight regarding the signs of Multiple Sclerosis and she said many but the most obvious sign is that she has been clumsy her whole life. She reports no muscle, bowel, bladder, eye, or neurological symptoms. Her postpartum physical assessment unremarkable. She states she will be able to remain on active duty as long as her disease allows. It’s amazing that a person with a debilitating disease can get pregnant, have an uncomplicated pregnancy and unremarkable delivery.

Post Partum or Pregnant?

OB Case:

I had a 34-year old African American woman presented to the OB clinic for her post partum/new OB appt. The patient was a 6-week post-partum visit from a D & C she received during her 4th month of pregnancy as a result of a massive fibroid. At that time the patient was informed and scheduled for surgery to have the fibroid removed. The patient resumed intercourse in hopes of having a baby in which she became pregnant again. The problem/issue is that this patient needs to have the fibroid removed prior to being able to maintain this pregnancy. The patient was counseled on the seriousness of this massive fibroid and the implications of future pregnancies and yet the patient is now pregnant again. The patient, in denial does not fully understand nor does she show any interest in what the effects of this fibroid can do to her and her upcoming pregnancy. She does not want to face reality even when shown with Ultrasound the size of the fibroid. I am personally amazed that she even became pregnant again. I know that sometimes women with fibroids have a hard time getting pregnant and yet she managed to get pregnant before her 6-week post-partum visit. I am just astonished by it. Education was enforced along with signs and symptoms as well as the risks explained to the patient. The patient was also informed of the possibility of a Myomectomy (although rare) to be performed during her pregnancy and she was referred to Maternal Fetal Health for High Risk Pregnancy.

I am so excited I am finally Pregnant!!!!

I had a 25yo G4P1 11wk gestation New OB Visit patient who responded to my question, "How are you feeling today?" with "I am so excited I am finally pregnant!" In short, she had her first child when she was 19, she had a missed abortion in 2009 at 9 weeks gestation, a missed abortion in February this year only to learn approximately two weeks after her D&C she was pregnant again. She didn't know she was pregnant with the the previous two so finding out "while" she was pregnant that she was pregnant was exciting! Unfortunately, when we went to check for fetal heart tones, none were to be found. We did a transabdominal US only to find no fetal movement or fetal cardiac movement...so we tried the transvaginal US, measured the fetus to be at approx. 8 weeks gestation, no movement, no heart movement....she was again...with a demise. Although my preceptor could have asked the doctor sharing her office with her to verify the US, she decided she did not want to trouble him for "this because it is routine and doesn't warrant me bothering him about it." He was standing right there in the hallway...completely available (well, in my opinion he was). The Acute MD was not available so my preceptor opted to have the client go to radiology to have a confirmation US performed and she would "get back with" the patient when the results were "available." She did have the patient return later that evening to review the results but, again, no MD was available to discuss her tx options. The patient had to wait two days before a doctor finally saw her to discuss her treatment options. I just found this to be unacceptable. I can't imagine making a woman sit there for two days knowing she had a three week demised fetus in her womb and no present control on how to deal with it. I think I would have asked the doctor sharing my office if he wouldn't mind spending some time with my client to review the findings and discuss tx options while I took on one or two of his clients. A long paragraph but I thought the details were important.