Oligohydramnion in the First Half of Pregnancy in the Fetuses with Congenital Abnormalities: Ultrasound Diagnostics and Obstetric Outcomes

Background.Oligohydramnion in the first half of pregnancy, combined with congenital abnormalities in the fetus has objective difficulties in diagnosis. The morphology features and type of defects associated with oligohydramnion, which manifests in the first half of pregnancy, are not sufficiently studied at the present stage. Aims to evaluate the clinical significance of diagnosing oligohydramnion in the first half of pregnancy in women with congenital fetal malformations. Materials and methods.The analysis of the course of pregnancy and perinatal outcomes in 77 women with low water content in combination with congenital malformations of the fetus and 72 patients with a normal amount of amniotic fluid and no congenital malformations of the fetus was performed. The patients of the main group were divided into two subgroups depending on the severity of oligohydramnion: the 1st subgroup (n = 54) patients with severe oligohydramnion and the 2nd subgroup (n = 23) patients with moderate oligohydramnion. The amount of amniotic fluid was determined by 3D/4D ultrasound (1321 weeks of gestation) and the structure of fetal abnormalities associated with oligohydramnion was analyzed. We evaluated perinatal outcomes in women with congenital malformations of the fetus in combination with oligohydramnion and the effect of its severity on the outcome of pregnancy. Results.In the main group (n = 77), fetal abnormalities were detected in patients: urinary system 39 (50.6%), respiratory system 4 (5.2%), heart 1 (1.3%), chromosomal and genetic abnormalities 14 (18.2%), central nervous system 3 (3.9%), osseous system 3 (3.9%), multiple 13 (16.9%). In the main group (n = 77), pregnancy was terminated for medical indications in 47 (61%) cases, in 6 (7.8%) spontaneous miscarriage occurred, in 5 (6.5%) antenatal fetal death. 19 (24.7%) children were born alive, and surgical treatment in the neonatal period was required in 8 (10.4%) cases. In the 1st subgroup (n = 54) in 53 (98.1%) cases, there was a loss of the fetus, in 1 (1.9%) the newborn died on the 9th day. In the 2nd subgroup (n = 23), fetal death occurred in 5 (21.7%) cases, 18 (78.3%) children were born alive, and 8 (44.4%) newborns were operated on in the neonatal period. In the control group, all pregnancies ended with the birth of healthy children. A decrease in ultrasound imaging of internal organs in the fetus was observed when a pregnant woman was obese (BMI more than 35). Conclusions.Oligohydramnion in the first half of pregnancy in combination with fetal malformation should be considered an extremely unfavorable clinical sign for the prognosis of pregnancy and the health of the fetus and newborn. 3D/4D ultrasound scanning allows you to reliably determine oligohydramnion in the first half of pregnancy, and the degree of its severity to assume the nature of complications.

CRISPR-Mediated Transcriptional Repression in Toxoplasma gondii

Toxoplasma gondii is a ubiquitous intracellular parasite of humans and animals that causes life-threatening disease in immunocompromised patients, fetal abnormalities when contracted during gestation, and recurrent eye lesions in some patients. Despite its health implications, about half of the Toxoplasma genome still lacks functional annotation.

Sirenomelia (Mermaid Syndrome)

Objective: To report a rare fetal abnormalities case Method: Case report Case: Reported case of a 37-year-old patient came to the emergency room at RSIA Siti Hawa Padang with complaints of inpartu signs in the last 8 hours before entering the hospital. After the examination, the diagnosis was G3P2A0L3 35-36 weeks of preterm parturient active phase of first stage + twice previous CS + breech presentation. Then, the patient was planned for an emergency CS at 07.50 am. Born babies with genitalia form was not identified, BW: 2030 grams, BH: 30 cm, Scoring Apgar: 3/5, there are congenital abnormalities in the lower extremity of the baby like mermaid form. After observing the baby’s room, the baby was declared dead at 09.50 am. Conclusion: Sirenomelia is a rare congenital defect that has a fatal impact, characterized by varying degrees of fusion in the lower limbs, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary and anorectal atresia. Because of the poor prognosis, management of sirenomelia will be very difficult with unexpected results. Key words : Fetal abnormalities, Sirenomelia, Mermaid syndrome.

A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow

In hypoplastic left heart syndrome (HLHS), the mechanisms leading to left heart hypoplasia and their associated fetal abnormalities are largely unknown. Current animal models have limited utility in resolving these questions as they either do not fully reproduce the cardiac phenotype, do not survive to term, and/or have very low disease penetrance. Here, we report the development of a surgically-induced mouse model of HLHS that overcomes these limitations. Briefly, we microinjected the fetal left atrium of embryonic day (E) 14.5 mice with an embolizing agent under high-frequency ultrasound guidance, which partially blocks blood flow into the left heart and induces hypoplasia. At term (E18.5), all positively embolized mice exhibit retrograde aortic arch flow, non-apex forming left ventricles and hypoplastic ascending aortas. We thus report the development of the first mouse model of isolated HLHS with a fully penetrant cardiac phenotype and survival to term. Our method allows for the interrogation of previously intractable questions, such as determining the mechanisms of cardiac hypoplasia and fetal abnormalities observed in HLHS, as well as testing of mechanism-based therapies which are urgently lacking.