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.

Application of the international classification of diseases-perinatal mortality (ICD-PM) system to stillbirths: A single center experience in a middle income country.

OBJECTIVE: The present study is intended to investigate the causes of stillbirth and its relationship with maternal conditions using the International Classification of Diseases-Perinatal Mortality (ICD-PM) system. MATERIAL AND METHODS: All early and late fetal deaths between 2015 and 2020 were analyzed. Time of death, fetal causes, and the maternal conditions involved were identified using the ICD-PM classification system. RESULTS: During the study period, out of 74,102 births a total of 475 stillbirths were recorded (6.4 per 1000 births), of which 83.6% of the cases were antepartum and 11.8% were intrapartum fetal deaths, and the time of death could not be determined in 4.6% of the cases. Fetal developmental disorder was the most common cause of antepartum fetal death (24.2%). Intrapartum deaths were mostly due to extremely low birth weight (44.6%). The most common maternal conditions involved were complications of placenta, cord, and membranes (19.8%). CONCLUSION: The applicability of the ICD-PM classification system for stillbirths is easy. It was observed that fetal deaths mostly occurred in the antepartum period and the cause of death could not be identified in over half of these antepartum fetal deaths. In over half of the stillbirths, there is at least one maternal condition involved. The most common maternal conditions involved are complications of placenta, cord, and membranes. The most common maternal medical problem is hypertensive diseases of pregnancy.

Prenatal evaluation and postnatal early outcomes of fetal ventriculomegaly.

OBJECTIVE: This study aims to determine the incidence, etiology, diagnostic criteria and early outcomes of prenatally diagnosed fetal ventriculomegaly (VM). METHODS: Diagnostic criteria for the fetal VM was atrial diameter of lateral ventricle measuring ≥10 mm, independent from gestational age. Results of our patients from ultrasonography (USG), karyotyping, congenital infections, and associated abnormalities were noted. Progress during pregnancy, postnatal USG results and neurobehavioral outcomes were recorded. RESULTS: In our study, 40 subjects of fetal VM were recorded. 16 and 24 of those were bilateral (40%) and unilateral (60%) respectively. Female to male fetus ratio was 19/21 (0.9). Median gestational age at the diagnosis was 22 weeks (ranging between 16 and 34 weeks). While 21 VM subjects were isolated (52.5%) only 19 of the total were shown associated structural abnormalities in (47.5%) in addition to VM. Toxoplasmosis were diagnosed only in one subject (2.5%). Nineteen subjects had amniocentesis (47.5%) and 2 of them were showed abnormalities (10.5%) as follows; "inversion and duplication 8 (p11.2p23)" and "deletion 3". VM got back in to normal size during pregnancy in 24 subjects (24/40, 60%). Eight pregnancies were terminated (8/40) (20%). Five babies passed away during neonatal and postneonatal period. Some other structural abnormalities were diagnosed after the birth at six babies who classified as mild "isolated" VM. CONCLUSIONS: Our study revealed that amongst mild VM subjects, incidence of associated abnormalities and termination rate were higher. Although most of mild VM subjects are thought to be benign, associated abnormalities should be carefully evaluated and determined pre- and postnatally.