Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type.

Chondrodysplasia punctata, a skeletal dysplasia with craniofacial dysmorphism and joint contractures can occur with rhizomelia, mesomelia or both. The rhizomelic form is generally lethal, whereas one form of mesomelic chondrodysplasia punctata has been described that is associated with a presumably normal lifespan and intelligence. We describe a case of a fetus suspected prenatally of having rhizomelic chondrodysplasia punctata, who was subsequently diagnosed at 1.5 years of age to have the tibia-metacarpal form of chondrodysplasia punctata. The prenatal sonographic findings of second-trimester micromelic bone shortening and third-trimester proximal femoral stippling may be present in the rhizomelic form but are not specific to this condition.

The prenatal identification of fetal compatibility in neonatal alloimmune thrombocytopenia using amniotic fluid and variable number of tandem repeat (VNTR) analysis.

Most severe episodes of neonatal alloimmune thrombocytopenic purpura (NATP) are caused by antiplatelet alloantibodies against the HPA-1a (PlA1) antigen. However, half of subsequent fetuses produced from a HPA-1a/b father (genotypic frequency 28%) will result in a child who is not affected. Some investigators manage NATP by confirming the fetal platelet phenotype using percutaneous umbilical cord sampling, a procedure that carries a low but real risk of fetal morbidity and mortality. More recently, physicians determine the fetal platelet antigen genotype using DNA derived from amniotic fluid or chorionic villus samples. All therapy is withdrawn for a fetus who genotypes as HPA-1b/b. However, since the fetus is the same genotype as the mother, there can be uncertainty about the origin of the genetic material and thus the validity of the fetal genotype. The inappropriate withdrawal of therapy for a erroneously genotyped fetus could be fatal, and consequently many physicians advocate fetal HPA-1 phenotyping with confirmation using percutaneous umbilical blood sampling. In this report we describe the management of two pregnancies with previously affected infants due to anti-HPA-1a alloantibodies. Both husbands were HPA-1a/b. For the current pregnancies, amniotic fluid was collected at 20 or 29 weeks of gestation, and the platelet genotype indicated that the fetuses were HPA-1b/b. The fetal origin of the amniotic fluid derived DNA was confirmed by the forensic technique of DNA profiling using variable number of tandem repeat (VNTR) analysis. All therapy was withdrawn, percutaneous umbilical blood sampling was not performed, and both women vaginally delivered healthy non-thrombocytopenic infants. The application of platelet alloantigen genotyping using DNA from amniotic fluid cells identified the HPA-1b/b fetus, and VNTR analysis confirmed that the tissue was fetal derived, thus avoiding the necessity for percutaneous umbilical blood sampling. The use of this approach in patients at risk will avoid additional investigation and treatment in approximately one-seventh of all NATP pregnancies involving the HPA-1a antigen.

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. The epidemiology and natural history of salmonella infections are also discussed. CONCLUSION: Non-typhoidal salmonella is still a cause of morbidity in Western countries. This infection can result in rapid-onset fetal demise and septic abortion.

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. Postnatal repair in combination with ECMO has resulted in improved neonatal outcome and has been recommended in all cases not having in utero repair. We describe a fetus diagnosed with a diaphragmatic hernia at 18 weeks of gestation in a woman whose only other pregnancy has been a 16 week abortus diagnosed with Fryns syndrome (FS). FS is a lethal, variable congenital anomaly syndrome that includes CDH, which is thought to contribute to the lethality of the syndrome. In utero repair was considered, but rejected because of the position of the liver and suspected FS. The patient elected to carry the pregnancy to term. Postnatal repair with ECMO was considered; however, the infant died at several hours of age because of severe pulmonary hypoplasia, being considered ineligible for ECMO. The diagnosis of BDLS was made at autopsy and suggests that the first case may, in fact, have been BDLS. In spite of recent success in the repair of CDH both in et ex utero, CDH in association with BDLS is likely lethal, and women with fetuses diagnosed antenatally with CDH and BDLS should be counseled as such.

Continuous, nonlocking, single-layer repair of the low transverse uterine incision.

Continuous, locking, single-layer closure of the low transverse uterine incision has been used, with a reportedly decreased risk of endometritis, decreased operating time and no increased risk of rupture with subsequent vaginal birth when compared with the more traditional, two-layer repair. However, in other tissues, such as fascia and skin, locking sutures cause increased tissue damage and weaker scars. We decided to determine the safety in the perioperative period of continuous, nonlocking, single-layer repair. Over a six-month period, 100 patients who had continuous, nonlocking, single-layer repair of their low transverse uterine incisions were compared with 100 matched controls who had the traditional, two-layer repair of a locking suture followed by an imbricating layer. Febrile morbidity, rates of endometritis, blood loss, requirements for additional hemostatic sutures and operating times were compared. Except for increased additional hemostatic suture use and decreased operating times in the single-layer group, we found no differences between the two methods. The continuous, nonlocking, single-layer technique is not only expedient and cost efficient but also safe in the perioperative period. It has the additional theoretical advantage of less tissue damage, which may result in a stronger wound and thus in a reduced risk of rupture with subsequent labor.

Vaginal probe ultrasound guidance for internal jugular catheterization.

The use of ultrasound to assist needle cannulation of the internal jugular vein is well described. However, most ultrasound probes are too bulky to use easily on the neck. We describe a technique using a vaginal ultrasound probe to guide needle cannulation of the internal jugular vein. The small size of the vaginal probe permits visualization on the video screen of both the vein and the needle throughout the entire insertion of the needle, minimizing insertion attempts and preventing complications.

First-trimester diagnosed cervico-isthmic pregnancy resulting in term delivery.

A 30-year-old multiparous woman at 5.5 weeks' gestation was diagnosed by ultrasound to have a cervical pregnancy. She refused termination because of religious beliefs. After expectant management until 38 weeks' gestation, she delivered a viable infant by cesarean, followed by immediate hysterectomy. Pathologic examination verified cervico-isthmic implantation as well as placenta percreta.

Use of intravenous amrinone in the short-term management of refractory heart failure in pregnancy.

The use of amrinone, a cardiac inotropic agent with vasodilatory properties, has not been described in human pregnancy. We report the use of amrinone in a woman at 18 weeks' gestation who had congestive heart failure secondary to bacterial endocarditis. Although her cardiac output and congestive heart failure improved, she developed hypoxemia, metabolic acidosis, and premature ventricular contractions. These effects resolved when the amrinone treatment was stopped.

Is placenta previa a determinant of preeclampsia?

Low implantation of the placenta has been reported to be associated with a decreased risk for preeclampsia and this has been attributed to increased placental blood flow. However, placenta previa is known to be associated with separation and bleeding, intrauterine growth retardation, and elevated umbilical blood flow resistance by Doppler studies, suggesting decreased umbilical blood flow. To better evaluate the relationship of placenta previa and preeclampsia, 6576 consecutive patients who had ultrasound examination after 28 weeks gestation and delivery at our institution were studied. The placental location, parity, maternal weight, development of preeclampsia, and gestational age were evaluated by using frequency tables and stepwise discriminant analysis. Results showed that placenta previa is not a significant determinant of the development of preeclampsia, but parity, maternal weight, and gestational age contributed significantly to the development of preeclampsia. The finding of decreased incidence of preeclampsia with previa is explained not by increased placental blood flow but by associated maternal characteristics, and particularly by the strong association of previa with premature delivery.