Dear Colleague

In this news letter I am discussing two topics. Ambiguous genitalia and intersex is always a perplexing situation in day to day practice and very important topic in our post graduation days. I took this topic from a book . I found it very interesting and felt that I should share this with you.

Second one is ,Pre-labor fetal monitoring . It  is one my favorite topic. I do color Doppler and NST and found that how interesting is to see fetal biophysical activities. The use of color Doppler and NST helps us a lot in high risk pregnancies to have a healthy child and decide the correct time of delivery and the way of delivery. It was a power point presentation, and I made it in a text,hence may look little awkward to read,due to grammatical mistakes, please forgive me

I had been to Barcelona ,Spain for ESHRE annual meeting. There were lots of paper and presentations in the field of IVF and embryology. I will discuss them in future news letters.

Bye

With best wishes and regards

Dr.D’Pankar Banerji

1.Ambiguous Genitalia… A brain teaser

An obstetrician delivers a baby and get a call from nursery to examine the newborn with ambiguous genitalia .The infant has a small phallic structure with hypospadias,bilateral cryptorchidism, but no other obvious problem. What should be the immediate studies to establish the diagnosis?

Karyotyping / 17-ketosteroid level / lower abdominal ultrasound / androgen binding studies on genital skin / electrolyte determinations

Androgen-binding studies on cultured genital skin cells are appropriate if the suspected diagnosis is androgen insensitivity. However, such studies often take several months, and the diagnosis may be inferred in other ways before then. Results of karyotyping can be back in 48 hours . if the newborn is karyotyped XX, the fetus is a masculanized female or could be the rare XX make with genital ambiguity. If the infant is chromosomally make , he is more likely to have a form of incomplete androgen insensitivity .

Levels of 17-ketosteroids are elevated in many forms of congenital adrenal hyperplasia and cn be determined quickly, but the clinician should be aware that the levels may not be greatly elevated until several days after birth.

An ultrasound of the lower abdomen allows assessment of the urinary tract, which may be abnormal in any infant with ambiguous genitalia. Also . the presence or absence of a uterus is crucial to evaluate. If a uterus is present and the chromosomes are 46,XX, the most likely diagnosis is congenital adrenal hyperplasia.

 If the differential diagnosis includes congenital adrenal hyperplasia , the infant many have life threatening electrolyte abnormalities with low sodium and elevated potassium levels. Electrolytes are also a concern in an infant who has renal failure, especially if the urinary tract is malformed.

Clinical presentation:

A mental checklist is helpful when examining the external genitalia of newvorn. Genitalia with an indeterminate appearance ( large appearing clitoris, severely hypospadic penile stricture, partial scrotal fusion , undescended testes) should prompt further investigation .

Term males : most term male infant will have descent of testes at least into the upper scrotum at the time of birth. Bilateral cryptorchidism may be associated with hypospadias, with abnormalities of the urinary tract, or with the masculinized female infant. The phallus should measure 2.5 cm in length with the urethral opening at the tip. The scrotum has a midline raphe.

Term female : The female infant’s labia majora may not completely cover the labia minora, especially in the preterm infant. The clitoral length should not exceed 1 cm, and there should not be fusion of the labia ( at times, come degree of posterior fusion is seen ). The vaginal orifice should be visible and is often identified by the presence of whitish mucus.

2.Pre-labor Fetal monitoring 

Largest advances made in assessment of the fetus at risk of death and morbidity secondary to placental insufficiency.

Fetal demise due to acute catastrophic changes still remain unpredictable and non preventable. Doppler studies are abnormal ,days before the onset of more apparent clinical changes. Doppler studies of middle cerebral artery in the assessment of fetal anemia ( even replacing the amniotic fluid bilirubin estimation in Rh incompatibility )

More monitoring of fetus with biophysical profile should be there, to reduce the perinatal mortality. Management of the fetus with abnormal Doppler studies is gestational-age dependent. In mature fetus : Delay of delivery is not recommended, If good heart rate               ( reassuring) then Induce labor  ; If heart rate is not good à LSCS

Biophysical profile  : It is the biophysical activities of fetus –Breathing, movements, tone, fetal heart rate reactivity(NST) and fluid volume.

Modified Biophysical profile:  1.Non stress test with VAST : Indicator of acute fetal hypoxia . 2.Amniotic fluid volume : Indicator of chronic fetal problem

• Sequence of fetal compromise

Increased umbilical artery(UA) resistance without centralization of flow. Increased UA resistance with centralization of flow. Absent umbilical artery diastolic flow. Reversed umbilical artery diastolic flow. Alteration in the venous circulation

Doppler in IUGR: Three vessels:1.Umbilical artery,2.Middle cerebral artery,3.Ductus Venosus. Index utilized most common is S/D ratio

Fetal compromise secondary to placental insufficiency: First sign : Progressive rise in S/D ratio in Umbilical artery, without centralization of flow ( UA S/D above normal limit and MCA remains normal, MCA S/D>UA S/D )

Centralization of Flow, It is brain sparing effect. MCA S/D is lower than UA S/D. This dramatic change in fetal hemodynamics is not ,however ,an indication for immediate delivery, It means close monitoring is required

Absent Umbilical artery diastollic flow: It is further fetal deterioration,Serious consideration should be given to the delivery to the fetus.Steroid injection ,daily NST and frequent Doppler ,if expectant treatment. Fetal hypoxia is present in 67-80% of fetuses and 45 % are acidotic. Late deceleration will develop about 2 weeks after this in immature fetus and sooner in fetus near term

Reversed UA diastolic flow: Ominous, Prompt delivery and High risk of death

Ductus venosus Doppler: Continuous uninterrupted forward flow during the systolic and diastolic phases of cardiac cycle. Any reverse flow is ominous

Middle cerebral artery peak systolic  velocity: It is an accurate non-invasive method fpr the diagnosis of fetal anemia. High index of reproducibility. The threshold for the diagnosis of fetal anemia is a value equal to or greater than 1.5 multiples of the median for the gestational age. Abnormally elevated MCA PSV has a sensitivity of 100% and a false positive rte of 12% for diagnosing fetal anemia

Dissertation in Biotechnology