Prenatal diagnosis of pulmonary arteriovenous malformations with a postnatal diagnosis of Osler-Weber-Rendu syndrome.

Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler-Weber-Rendu syndrome using autopsy and whole exom sequencing.

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is a congenital disease of glycosylation (CDG) linked to the ALG9 gene. GIKANIS is a lethal disorder characterized by atypical facial features, generalized skeletal changes with shortening of the long bones with broad, round metaphyses, round ilia, and deficient ossification of the skull, cervical spine and pubic bones, and visceral abnormalities including polycystic kidneys and congenital cardiac defects. GIKANIS is caused by a homozygous splicing variant (c.1173 + 2 T > A) leading to skipping of exon 10, frameshift, and premature termination codon of the ALG9 gene. To our best knowledge, only two affected families with confirmed molecular analyses have been reported. We present an additional report on two siblings with the same mutation, emphasizing the prenatal ultrasonographic features. Their facial and skeletal manifestations recapitulated those previously reported. Ultrasonography revealed polycystic kidneys and unbalanced atrioventricular septal defect (AVSD) with transposition of the great arteries.

The Correlation of Cord Arterial Blood Gas Analysis Results and Apgar Scores in Term Infants Without Fetal Distress.

OBJECTIVE: This study aimed to evaluate the necessity of cord arterial blood gas analysis in cases without fetal distress and normal Apgar score. MATERIALS AND METHODS: The cord arterial blood gas analysis and the 1- and 5-minute Apgar scores data of 1438 cases were evaluated. Newborns with fetal distress, neonates requiring cardiopulmonary resuscitation in the delivery room, congenital anomalies, severe and moderate acidemia (pH ≤7.1 at cord arterial blood gas analysis), and pre- and post-term newborns are excluded. Following cord arterial blood gas analysis, threshold values were accepted as abnormal pH <7.2, base excess ≥ -6 mmol/L, lactate ≥ 5 mmol/L, bicarbonate < 18 mmol/L, and partial pressure of carbon dioxide ≥ 50 mmHg. We evaluated the correlation between cord arterial blood gas analysis and 1- and 5-minute Apgar scores. RESULTS: There was a significant correlation between both 1- and 5-minute Apgar scores and cord arterial blood gas analysis values such as pH, lactate, and partial pressure of carbon dioxide (P < .001). In addition, a significant correlation was found between the 5-minute Apgar score of <7 and some cord arterial blood gas analysis abnormal threshold values (pH, bicarbonate, base excess) (P < .001). We found that some patients with mild acidemia had 1- and 5-minute Apgar scores of ≥7 in 1.9% and 2% of cases, respectively. CONCLUSION: The 5-minute Apgar score of 7 or higher may not be sufficient to verify the wellbeing of a newborn. Relying only on the Apgar scores may create the risk of missing some newborns with mild metabolic acidosis. The necessity of routine cord arterial blood gas analysis should be considered in prospective studies even if there are no signs of fetal distress and Apgar score ≥7.

Complete Hydatidiform Mole and Co-Existing Live Fetus after Intracytoplasmic Sperm Injection: A Case Report and Literature Review.

INTRODUCTION: Twin pregnancy with complete hydatidiform mole and co-existing fetus (CHMCF) is an uncommon obstetric entity and may occur after assisted reproductive technologies. These pregnancies are associated with severe complications for both mother and fetus and the management is challenging. Case Report: We report a twin pregnancy after intracytoplasmic sperm injection (ICSI) treatment with CHMCF which delivered at 26 gestation weeks due to severe preeclampsia. The 625g neonate survived without any complication. The woman had persistent trophoblastic disease with lung metastasis and was treated with single agent methotrexate. We also present a brief review of the literature about the outcomes of CHMCF after ICSI. Conclusion: CHMCF may occur after ICSI treatment. Pregnancies with CHMCF are associated with severe complications however under close follow-up successful outcomes could be achieved in such pregnancies.