Congenital toxoplasmosis presenting with fetal atrial flutter after maternal ingestion of infected moose meat.

Consumption of undercooked game meat during pregnancy is considered a risk factor for congenital toxoplasmosis, but cases definitively linking ingestion of infected meat to clinical disease are lacking. We report a confirmed case of congenital toxoplasmosis identified because of atrial flutter in the fetus and linked to maternal consumption of Toxoplasma gondii PCR-positive moose meat.

Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature.

Fluorescence in situ hybridization (FISH) using biotin labeled X- and Y-chromosome DNA probes was utilized in the analysis of 23 sex chromosome-derived markers. Specimens were obtained through prenatal diagnosis, because of a presumptive diagnosis of Ullrich-Turner syndrome, mental retardation, and minor anomalies or ambiguous genitalia; three were spontaneous abortuses. Twelve markers were derived from the X chromosome and eleven from the Y chromosome; this demonstrates successfully the value and necessity of FISH utilizing DNA probes in the identification of sex chromosome markers.

Maternal thyroid function does not alter maternal serum alpha-fetoprotein interpretation.

Objective: Endocrine alterations of metabolism such as diabetes and obesity are known to affect maternal serum alpha-fetoprotein interpretation. Thyroid function has been questioned, e.g.

Hyperemesis gravidarum. Effects on fetal outcome.

Objective: To study perinatal outcomes in pregnancies complicated by hyperemesis gravidarum (HG) as compared to controls.

Study Design: Between 1984 and 1991, 138 patients were diagnosed with HG according to Fairweather's criteria. Subjects were stratified into groups of mild and severe HG according to the presence of at least one of the following criteria: ketonuria, increased blood urea nitrogen and hematocrit, and/or abnormal electrolytes.

Modified stylet technique for tenting of amniotic membranes.

A modified amniocentesis technique can reduce the failure rate in cases of tenting of the membranes. Failure to aspirate amniotic fluid (AF) because of amniotic membrane tenting may persist after advancement and rotation of the needle. In such cases, the membranes may be pierced by using a stylet that is longer than the length of the needle.

Role of ultrasonography in pregnancies with marker chromosome aneuploidy.

The objective of this report was to evaluate the effect of ultrasonographic (US) findings on pregnancy management in patients with marker chromosome (MC) aneuploidy ascertained through prenatal diagnosis. From 1989 through June 1993, 15,522 prenatal diagnostic procedures were performed for accepted indications. Charts of patients with MC on amniocentesis or chorionic villus sampling (CVS) karyotype were evaluated with respect to US anomalies, pregnancy complications, and outcome.

First-trimester septic abortion due to Salmonella enteritidis Oranienburg.

Background: Septic abortion caused by transplacental salmonella infection is extremely rare; there are no reported cases of serotype oranienburg as an etiology.

Case: We describe a patient with non-typhoidal Salmonella enteritidis serotype oranienburg as a cause of first-trimester pregnancy loss. The rapid progression of this patient's septicemia and adverse outcome is described.

Fluorescent in situ hybridization and second-trimester sonographic anomalies: uses and limitations.

The critical need for rapid and reliable karyotype analysis can be no greater than in the setting of sonographic fetal anomalies. Fluorescent in situ hybridization (FISH) directly applied to interphase chromosomes can decrease the time required to identify the common aneuploidies. Our retrospective study reviewed 50 consecutive patients with sonographic fetal anomalies who underwent FISH.

Gastroschisis: can antenatal ultrasound predict infant outcomes?

Objective: To test previously proposed but unproven antenatal ultrasound prognostic criteria in fetal gastroschisis.

Methods: Thirty consecutive gastroschisis-affected pregnancies and their outcomes were reviewed retrospectively. Data were tabulated by review of antenatal ultrasound videotapes, with blinded comparison to indicators of short- and long-term infant outcomes obtained from the medical records.

Fluorescent in situ hybridization utilization for high-risk prenatal diagnosis: a trade-off among speed, expense, and inherent limitations of chromosome-specific probes.

Objective: The development of fluorescent in situ hybridization chromosome-specific probes has allowed the use of new fetal tissue collection techniques, such as fetal cells in maternal blood and coelocentesis--both of which, with current techniques, cannot generate complete karyotypes. We evaluated chromosome-specific probes for additional potential limitations in the setting of a high-risk prenatal diagnosis center.

Study Design: The last 24 months of fetal karyotypes from our prenatal cytogenetics laboratory were analyzed for those abnormalities that should be detectable by chromosome-specific probes and those that would likely be missed.

Risk of anomalies as a function of level of elevated maternal serum alpha-fetoprotein.

Objective: Most neural tube defects risks are not actual but mathematical extrapolations. We sought to evaluate this risk and to compare actual performance.

Study Design: This was a retrospective study of a referral population with elevated maternal serum alpha-fetoprotein results between 1987 and 1992.

In utero surgical treatment of fetal obstructive uropathy: a new comprehensive approach to identify appropriate candidates for vesicoamniotic shunt therapy.

Objectives: We present a new approach to prenatal evaluation and prediction of renal function and long-term outcomes for fetuses considered candidates for in utero surgery.

Study Design: A review of 34 cases of obstructive uropathies was made, with analysis of our approach to prenatal evaluation, the predictive value of urinary electrolytes and protein analysis in identifying renal dysplasia, and the outcomes of cases with and without in utero surgical intervention.

Results: Ten of 11 pregnancies that were terminated had dysplasia; one female had cloacal dysgenesis.

Platelet activating factor-acetylhydrolase activity following chorionic villus sampling and amniocentesis.

Objective: Platelet activating factor (PAF) is essential for embryonic development and is a potent vasodilator. It increases vascular permeability and stimulates prostaglandin E2 (PGE2) production. Platelet activating factor-acetylhydrolase (PAF-AH), the enzyme that degrades PAF, is synthesized by decidual macrophages.

Sonographic screening for trisomy 21: fetal humerus:foot length ratio, a useful new marker.

We have analyzed morphometric measurements from midgestational fetal necropsies and shown that arm and foot lengths are linear relationships versus gestational age (GA). Using foot length as the GA determinant, we found that the ratio of arm:foot length was also a linear relationship and was decreased in trisomy 21 fetuses when compared to age-matched normals. Based on these laboratory findings, we prospectively evaluated the use of the humerus:foot length ratio as a sonographic screening tool for identification of fetuses at risk for trisomy 21.

Epidemic syphilis: maternal factors associated with congenital infection.

Objective: Little is known about which cases of maternal syphilis will affect the newborn. Because of the current epidemic of syphilis in pregnancy in our city, we sought to identify risk factors during pregnancy associated with congenital infection.

Study Design: We reviewed 253 cases of maternal syphilis prospectively identified over a 1-year period.

Maternal neurosurgical shunts and pregnancy outcome.

Objective: To assess pregnancy outcome in women with ventriculoperitoneal or lumboperitoneal shunts.

Methods: Charts were reviewed retrospectively for mothers with ventriculoperitoneal or lumboperitoneal shunts delivered at Hutzel Hospital from 1976-1992. Patients were identified by cross-referencing medical records from Children's Hospital Neurosurgical Division and medical records at Hutzel Hospital during this period.

Technical aspects of transcervical chorionic villus sampling.

Following the 1990 FDA approval of the Trophocan catheter for use in transcervical chorionic villus sampling (CVS), an increasing number of US physicians have begun offering the procedure. To obtain privileges to perform CVS, some states such as California have enacted legislation requiring the performance of a certain number of CVS procedures in pregnancies in which the patient has already chosen first-trimester abortion. This practice is not universally feasible for legal, logistic, or financial reasons.

Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome.

Brachmann-de Lange syndrome (BDLS) is a variable multiple congenital anomaly syndrome that occasionally includes congenital diaphragmatic hernia (CDH). CDH per se is commonly diagnosed antenatally and has been corrected with increasing success in utero and by neonatal repair with extracorporeal membrane oxygenation (ECMO). In utero repair requires normal karyotype as well as the absence of other lethal anomalies.

Meroanencephaly: pathology and prenatal diagnosis.

Meroanencephaly is a rare form of anencephaly characterized by malformed cranial bones and a median cranial defect, through which protrudes abnormal tissue, called the area cerebrovasculosa. Area cerebrovasculosa denotes abnormal spongy, vascular tissue admixed with glial tissue ranging from a thin membrane to a large pseudoencephalic mass simulating cerebral tissue, that is composed of connective tissue, hemorrhagic vascular channels, glial nodules, and disorganized choroid plexuses. There are three types of anencephaly: (1) meroanencephaly, where there is rudimentary brain tissue and partial formation of the cranium; (2) holoanencephaly, the most common type, in which the brain is completely absent, and (3) craniorachischisis, the most severe, where area cerebrovasculosa and area medullovasculosa fill both cranial defects and the spinal column.

Maternal serum alpha-fetoprotein screening: the need to use race/ethnic specific medians in Asians.

Objectives: We questioned whether race-specific databases for maternal serum alpha-fetoprotein (MSAFP) screening should be added to those already available for African-American and white patients.

Study Design: We analyzed 138,272 MSAFP samples. The geographic origin of the samples was New York metropolitan area.

Fetal leg and femur/foot length ratio: a marker for trisomy 21.

Objective: Our purpose was to determine whether the femur/foot length ratio is useful in the prenatal detection of trisomy 21.

Study Design: Direct necropsy measurements were analyzed on 436 midgestational fetuses (391 normal, 45 with trisomy 21). Necropsy leg/foot length ratio versus gestational age was found to be significantly different between normal fetuses and those with trisomy 21.