Sanyukta Runkel

Feto-Feto-Fetal Triplet Transfusion Syndrome (FFFTTS)

We report a case of feto-feto-fetal-transfusion-syndrome (FFFTS) in a spontaneous monochorionic triamniotic triplet pregnancy primarily diagnosed at 17 weeks of gestation. During the course of pregnancy, sequentially two triplets appeared as donor. Symptoms of a recipient (polyhydramnios, tricuspid valve insufficiency, and ascites) were present in the third triplet. The second of the donor twins died in utero at 25 weeks. At 27 weeks, a cesarean section was performed mainly due to pre-eclampsia. The first donor triplet developed normally, whereas the recipient showed periventricular leucomalacia and neurological impairment.

Congenital cystic adenomatoid malformation of the lung and fetal hydrops – a case with favourable outcome

We present a case of congenital cystic adenomatoid malformation of the lung (CCAM) diagnosed at 23 weeks of gestation with concomitant fetal hydrops. The sonographical picture of CCAM disappeared in the third trimester of pregnancy and fetal hydrops resolved under medication with digitalis to the mother. The neonate showed mild dyspnea; the prenatal diagnosis of CCAM was confirmed by chest X-ray and computed tomography. The affected lung segments were dissected at 5 days of age. The diagnosis of CCAM type III was confirmed histologically.

Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus

Larsen syndrome shows a broad spectrum of clinical manifestation ranging from a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifestation may vary extremely to the point that Larsen syndrome in a father has been diagnosed only by typical sonographic features in an affected fetus.

Prenatal Diagnosis of Body Stalk Anomaly at 9 Weeks of Gestation

We report on a case of embryonic anomaly detected at 9 + 5 gestational weeks. The lower part of the embryo was located in the coelomic cavity. Lower extremities could not be depicted. The abdominal wall showed the appearance of omphalocoele. After termination of pregnancy at 10 weeks, autopsy confirmed the anomaly of the lower embryonic parts consistent with the diagnosis of body stalk anomaly. To our knowledge, this is the first observation of this condition before 10 gestational weeks.

Acute onset of blindness during labor: report of a case of transient cortical blindness in association with HELLP syndrome.

The coincidence of HELLP syndrome and cortical blindness is an uncommon but very dramatic event, for the patient as well as the obstetrician. This report describes the first case of HELLP-syndrome-associated cortical blindness occuring suddenly in the third stage of labour. There were only modest correlates of cortical blindness in cerebral CT, MRI and angiography findings, but no signs of a posterior leucoencephalopathy syndrome. Mother and baby were discharged from hospital to outpatient care in good health on the 12th day.

Hyperemesis in late pregnancy - should we think of cancer? A case report

Gastric cancer is unusual during pregnancy. The diagnosis may be delayed because specific symptoms are similar to typical pregnancy associated complaints. Our therapeutic management with palliative chemotherapy and later gastrectomy differs from other known cases, where surgical resection has been the treatment of choice. Surgery appears to have no influence on the prognosis of gastric cancer patients with hepatic metastases.

Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report.

Advances in ultrasound technology and sonographer’s experience lead to the description of many rare syndromes and malformations through prenatal diagnosis. Diaphragmatic hernia is a rather common malformation but can be an indicator of different syndromes. We report the prenatal diagnosis of lethal multiple pterygium syndrome type II which has been established in the 34th week of pregnancy. The sonographically detectable symptoms consisted of polyhydramnios, hygroma colli, diaphragmatic hernia, scoliosis, short forearms, hypokinesia of the fetus and pterygia over the large joints. Labour was induced in the 34th week of pregnancy; the neonate died shortly after vaginal delivery as a result of the pulmonary hypoplasia. A multidisciplinary approach in prenatal assessment may help to clarify difficult diagnostic problems and may be of direct benefit for the pregnant patient.

Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities

We report here a case of partial trisomy of the short arm of chromosome 3 combined with partial monosomy 5p due to malsegregation of a balanced maternal translocation t(3;5). The newborn demonstrated esophageal atresia and complex cerebral malformations. Conspicuous sonographic findings offering the chance of prenatal detection included polyhydramnios without visualization of the stomach, as well as a single umbilical artery. The child died 8 days postpartum.

Diagnostic dilemma with elevated level of α-fetoprotein in an undiagnosed twin pregnancy with a small discordant holoacardius acephalus

We report a case of a patient who had highly elevated levels of alpha-fetoprotein when she was first examined and a positive acetylcholinesterase test result in amniotic fluid. Despite repeated ultrasonographic screening, pathologic findings were not detected and the holoacardius acephalus twin was not identified. After termination of pregnancy the histopathologic findings demonstrated a twin pregnancy with a holoacardius acephalus.

Book Review and Announcements

This excellent guide armed at assisting the pediatric house officer and neonatology fellow in day-to-day practice issues in neonatal intensive care is a second edition of the first one written in 1979. Each section was carefully updated and new and expanded sections have been added to take into account the changes in neonatal practice. New chapters include percutaneous central venous catheters, congenital epidermolysis bullosa, neonatal neoplasms, major vessel thrombosis, fetomaternal hemorrhage, fetal and neonatal arrhythmias, the effects of maternal drugs on the fetus/newborn and lactation, high-frequency ventilation, neonatal pain, the neonatal airway, neonatal anesthesia, and inhalational nitric oxide therapy. The role of the neonatal nurse practitioner is also addressed. The chapters on neonatal surgery and respiratory care have been expanded, as has the section on neonatal infection, which includes guidelines for intrapartum and neonatal management of group B streptococcal disease. Serge Uzan, Paris