Fetal presentation of congenital long QT syndrome.

Thirty-two-week prenatal ultrasound revealed a fetal heart rate of 100 bpm with decreased variability on the heart rate tracing. Echocardiogram documented normal anatomy and sinus bradycardia. Newborn electrocardiogram revealed sinus rhythm at 100 bpm with a QTc of 0.657. Follow-up electrocardiogram revealed a QTc interval of 0.568, 2:1 atrioventricular block with a ventricular rate of 60 bpm, and ventricular ectopy. The infant received a pacemaker and beta-blocker therapy. Long QT syndrome should be in the differential diagnosis of the fetus with bradycardia and decreased heart rate variability in the absence of distress. Early diagnosis allowed for preventative care in the infant and identification of family members at risk.

The effect of fetomaternal bleeding on the risk of adverse pregnancy outcome in patients with elevated second-trimester maternal serum alpha-fetoprotein levels.

OBJECTIVE: Unexplained maternal serum alpha-fetoprotein elevation has been associated with an increased risk of intrauterine growth retardation, preterm delivery, and intrauterine fetal death. The purpose of this study was to determine whether patients with evidence of recent fetomaternal bleeding as a cause of elevated maternal serum alpha-fetoprotein level are at a lower risk for adverse pregnancy outcome than those without such evidence. STUDY DESIGN: Patients with elevated maternal serum alpha-fetoprotein levels who had a singleton viable fetus without ultrasonographically detectable anomalies were offered inclusion in this study. Study participants had blood drawn for fetal cell analysis before amniocentesis. The pregnancy outcomes of patients with evidence of fetomaternal bleeding were compared with those of patients without. RESULTS: Of 229 patients, 109 (47.6%) had evidence of fetomaternal bleeding as a possible cause of elevated maternal serum alpha-fetoprotein. Of these, 86 (78.9%) had a normal pregnancy outcome compared with 84 of 120 (70.0%) with a negative stain for fetal cells (p not significant). There was no significant difference in the incidence of preterm delivery (14 [12.8%] vs 15 [12.5%]), intrauterine growth retardation (5 [4.6%] vs 9 [7.5%]), or intrauterine fetal death (4 [3.7%] vs 8 [6.6%]) when patients with a positive stain for fetal cells were compared with those with a negative stain. CONCLUSION: Among patients with elevated maternal serum alpha-fetoprotein levels, those with evidence of recent fetomaternal bleeding do not appear to be at decreased risk for adverse pregnancy outcome compared with those without such evidence.

Prenatal detection of non-cardiac rhabdomyosarcoma.

The most prevalent soft tissue tumour in children is rhabdomyosarcoma. These tumours may develop within or outside of muscle anywhere in the body and at any age. We report what is apparently the earliest case of non-cardiac rhabdomyosarcoma detected prenatally.

Reversal of acute polyhydramnios after fetal renal decompression.

Polyhydramnios and premature labor at twenty-seven weeks secondary to an intrafetal renal cyst are described. Antenatal fetal cyst decompression successfully reversed the polyhydramnios and prevented premature delivery, resulting in a full-term healthy infant delivered vaginally at thirty-nine weeks. Urologic investigation postpartum revealed a probable congenital ureteropelvic junction obstruction.

Selective birth in a case of twins discordant for Tay Sachs disease.

The authors have performed selective birth in two twin pregnancies in the same patient. The couple's first pregnancy resulted in the birth of a male with Tay Sachs disease: their Pergonal-induced second pregnancy was a twin gestation discordant for Tay Sachs disease. A fetal intracardiac puncture, exsanguination, and fetal intracardiac air embolization were then performed. The patient went into premature labor 9 days later and delivered a normal immature infant, who died, and the macerated cotwin. The third Pergonal-induced pregnancy was a singleton with Tay Sachs disease and the pregnancy was terminated. Their fourth Pergonal-induced pregnancy was a twin gestation discordant for Tay Sachs disease. At 20 weeks gestation, fetal intracardiac air embolization was performed with immediate demise of the affected fetus. The pregnancy was followed closely with ultrasonography and coagulation studies and proceeded to term without complication. A normal female and a fetus papyraceous were delivered by cesarean section.

Antenatal genetic studies in twin pregnancies.

The diagnosis of multiple gestation at the time of genetic amniocentesis is a routine occurrence. In a combined series of 2765 patients referred for antenatal genetic studies from the Medical College of Virginia and the University of Iowa, 34 twin pregnancies were encountered (1.2%). Twenty-six of the patients with twins were referred for advanced maternal age. The other indications were previous neural tube defects (1), previous trisomy 21 (2), known carriers of Tay Sachs disease (2), previous Turner's syndrome (1), family history of trisomy 21 (1), and one pregnancy was referred because of an abnormal ultrasound. Amniocentesis procedures, outcome of the twin pregnancies, and genetic counseling issues, are discussed.

Antenatally detected Klinefelter's syndrome in twins.

An increased incidence of twinning has been reported among patients with Klinefelter's syndrome (XXY) and their relatives, but no data have been reported about the incidence of XXY among twins. Results from our institution's antenatal testing clinic provide data about twins and XXY. In 1842 pregnancies tested, 21 were noted to be twin gestations. Five fetuses with XXY were detected in all pregnancies, of which there was a pair of MZ twins concordant for XXY and a pair of DZ twins discordant for XXY. The incidence of XXY in twins was thus 7,1%. The fetal phenotype of XXY was examined in aborted MZ twins and found to be mild. Notably, the testicular histology was normal. These cases confirm the previously reported association of twinning and XXY. The association of twinning and XXY implies a commonality of causation; however, a maternal age effect cannot be excluded. Our data suggest that there is an increased risk of XXY among twins.

Reversal of polyhydramnios by drainage of a fetal renal cyst. A case report.

At 28 weeks' gestation a patient developed polyhydramnios associated with a large fetal renal cyst demonstrated by ultrasound. Drainage of the cyst was performed, resulting in the disappearance of polyhydramnios. The pregnancy progressed normally to term and resulted in the delivery of a healthy infant.

Genetic studies of an acardiac monster: evidence of polar body twinning in man.

Two maternally derived chromosome sets and both maternal histocompatibility antigen haplotypes were identified in the tissues of a malformed triploid acardiac twin that developed within the same chorion as its normal twin. These findings indicate that the twins arose as a result of independent fertilizations, by two different spermatozoa, of a normal haploid ovum and its diploid first-meiotic-division polar body.

Identification of differing etiologies of clinically diagnosed premature menopause.

Investigations were performed in eight young women to determine if the findings of secondary amenorrhea and high follicle-stimulating hormone levels were due to primary ovarian follicular atresia or to other causes. Karyotypes were determined from both peripheral leukocytes and ovarian tissue; one woman had XXX/XX/XO mosaicism. Another woman had normal ovarian histology and probably had the "gonadotropin-resistant ovary syndrome." No autoimmune antibodies were detected, but one woman with myasthenia gravis also had ovarian histology that demonstrated primary ova and a developing follicle. Only five of eight women had primary ovarian follicular atresia, and two of the other three women had conditions theoretically compatible with subsequent pregnancy.