Kasr Alainy simplified uterine preserving surgery for conservative management of placenta accreta spectrum (PAS): A modified surgical approach.

OBJECTIVE: The incidence of placenta accreta spectrum (PAS) is rising rapidly due to the global surge in Caesarean delivery. It is associated with significant maternal morbidity and mortality. It is usually managed with Caesarean hysterectomy. However, uterine preserving surgeries can have advantages over Caesarean hysterectomy and intentional placental retention techniques. STUDY DESIGN: We present a modified technique of uterine preserving surgery that uses a safe approach for placental bed surgical devascularization. This is followed by resection of the invaded uterine segment and uterine wall reconstruction. RESULTS: The technique was used in the management of 20 patients with antenatally suspected PAS that were confirmed at laparotomy. It was successful in preserving the uterus in 18/20 (90 %) women. The mean intraoperative blood loss in was 1305 CC (SD: +361.6) with a mean operative time of 123 min (SD: ±38.7). There was only one urinary bladder injury and no other maternal morbidity. CONCLUSION: Our surgical technique is safe and may be useful for conservative surgical management of PAS, particularly in low- and middle-income countries, where access to complex resources, such as interventional radiology, is limited.

Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.

Kinase D-interacting substrate of 220 kDa (KIDINS220) is a transmembrane protein playing integral role in growth mediating pathways in the nervous and cardiovascular systems. KIDINS220 heterozygous truncating variants that affect the protein's C-terminus have been associated with a phenotype, so far described only in few unrelated children, including spastic paraplegia, intellectual disability, nystagmus, and obesity. More recently, a homozygous, more N-terminal truncating variant in KIDINS220 gene was suggested to be associated with enlarged cerebral ventricles and limb contractures in three fetuses from a consanguineous family. We confirm the latter finding by presenting the first detailed prenatal identification of a fetal phenotype associated with novel homozygous deleterious frameshift variant in KIDINS220 gene in a consanguineous healthy Egyptian couple. History of unexplained seven miscarriages and a similar stillbirth were recorded. Prenatal ultrasonography revealed limb contractions and ventriculomegaly; in addition to previously unreported cerebellar anomalies, cardiac anomalies and hydrops fetalis. These findings represent an expansion of clinical and molecular spectrum associated with KIDINS220 variants and broaden our understanding of genotype-phenotype relationships in lethal congenital contractures syndromes and associated severe abnormal embryological development. More generally, our study adds KIDINS220 to the rare group of genes which may cause disease by either of two distinct mutational mechanisms.

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.

OBJECTIVE: The purpose of this study was to elucidate the facial morphology and the pattern of internal malformations in three fetuses with RS born to first cousins of Egyptian decent. METHODS: The fetal ultrasonography findings were highly suggestive of RS leading to targeted Sanger sequencing of FAM20C and postnatal assessment. RESULTS: The prenatal ultrasound findings of osteosclerotic skull, exorbitism, hypoplastic nose, midface hypoplasia, small mouth with down-curved corners, and a distinct and recognizable pattern of intracranial calcification were identified in three fetuses with RS. The calcifications were evident specifically around the corpus callosum and/or ventricular walls. Ectopic renal and hepatic calcifications, pulmonary hypoplasia, mild rhizomelic shortening of the upper limbs, intrauterine fractures, and cerebellar hypoplasia were also noted. Molecular analysis identified three novel homozygous variants, two frameshift: [c.456delC (p.Gly153Alafs*34)] in exon 1 and [c.905delT (Phe302Serfs*35)] in exon 4 and one nonsense mutation in exon 10, [c.1557C>G(p.Tyrs519*)]. The three variants were segregated with the phenotype. This is the first description of a phenotype associated with homozygous truncating variants of FAM20C. CONCLUSION: RS has characteristic prenatal ultrasound findings which can improve the prenatal identification of this condition and help in guiding the molecular diagnosis and counseling.

The value of fetal Doppler indices as predictors of perinatal outcome in women with preeclampsia with severe features.

Objective: To evaluate the diagnostic performance of Doppler sonography of umbilical artery (UA), fetal middle cerebral artery (MCA), ductus venosus (DV) & umbilical vein (UV) for prediction of adverse perinatal outcome.Material and Methods: A prospective cohort study conducted on 60 women diagnosed  with preeclampsia with severe features divided into two groups based on adverse perinatal outcome.Results: Statistically Significant differences were demonstrated UA PI (1.28 ± 0.23 vs. 0.96 ± 0.21, P <0.001), UA RI (0.78 ± 0.09 vs. 0.62 ± 0.09, P <0.001), MCA PI (1.27 ± 0.28 vs. 1.45±0.20, P 0.005), MCA RI (0.67 ± 0.10 vs. 0.76 ± 0.08, P<0.001), Cerebroplacental ratio (1.01 ± 0.36 vs. 1.57 ± 0.35, P <0.001), DV PVIV (0.67 ± 0.20 vs. 0.51 ± 0.14, P= 0.004), DV PSV (54.74 ± 17.11 vs. 42.15 ± 9.42, P= 0.004)  and abnormal DV a wave (23.8 vs. 0%, P = 0.004) in women with adverse and normal perinatal outcome respectively. UA PI and CPR had the highest specificity while UA RI had the highest sensitivity for detection of adverse perinatal outcome.Conclusion: CPR < 1 can be used to identify fetuses at risk of morbidity and mortality among such cases.

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.

OBJECTIVE: The objective of this study is to evaluate the prenatal diagnosis, postnatal characteristics, and the spectrum of associated findings in fetuses with holoprosencephaly (HPE). METHODS: Fetal neurosonograms, postnatal assessment, and chromosomal analysis were performed in a cohort of 25 fetuses with HPE. RESULTS: The prevalence of HPE in high-risk pregnancies was 4.4:10 000. The alobar subtype was the most frequently encountered, with 17 cases (68%). Interestingly, among them, four cases (16%) presented with the rare agnathia-otocephaly complex. Chromosomal abnormalities were detected in 11 cases (44%), the most frequent being trisomy 13 in seven cases (five alobar, one semilobar, and one lobar HPE), followed by trisomy 18 in two cases with semilobar HPE. One case of alobar HPE had 45, XX, t(18;22) (q10;q10), -18p karyotyping, and one case of semilobar HPE was associated with triploidy. Facial malformations in HPE spectrum ranged from cyclopia, proboscis, and arrhinia that were associated with the alobar subtype to hypotelorism and median cleft that were frequent among the semilobar and lobar subtypes. Associated neural tube defects were identified in 12% of cases. CONCLUSION: Our study illustrates the clinical and genetic heterogeneity of HPE and describes different chromosomal abnormalities associated with HPE.

Diagnostic value of the International Ovarian Tumor Analysis (IOTA) simple rules versus pattern recognition to differentiate between malignant and benign ovarian masses.

OBJECTIVE: To compare the efficacy of the International Ovarian Tumor Analysis (IOTA) simple rules versus pattern recognition to differentiate between benign and malignant ovarian masses. METHODS: A prospective cross-sectional study conducted at Kasr El Aini Hospital, Cairo, between April 2016 and October 2018 of 396 women with ovarian masses measuring more than 5 cm who were candidates for surgery. All patients underwent two-dimensional transvaginal sonography: level 2 with IOTA simple rules followed by level 3 with pattern recognition. Patients subsequently underwent ovarian cystectomy or oophorectomy and the specimens were examined histopathologically. Accuracy was measured by comparing sensitivity, specificity, positive predictive value, negative predictive value, and accuracy. RESULTS: IOTA simple rules specified 44/50 cases as malignant and 220/242 as benign (sensitivity and specificity of 88.0% and 90.9%, respectively). Pattern recognition identified 83/94 cases as malignant and 281/302 as benign (sensitivity and specificity of 88.3% and 92.7%, respectively). No statistically significant difference in accuracy was found between the two methods. CONCLUSION: IOTA simple rules are an effective tool for detecting ovarian malignancy when performed by nonexpert sonographers. When results are inconclusive, pattern recognition should be performed additionally by an expert sonographer. CLINICAL TRIALS REGISTRATION: NCT02800031.

Fetal heart examination at the time of 13 weeks scan: a 5 years' prospective study.

Objective To evaluate our ability in classifying the fetal heart as normal or abnormal during the 1st trimester scan through fetal cardiac examination and determining the best time for this examination. Methods This was a prospective study performed on 3240 pregnant women to examine the fetal heart. Four chambers view and ventricular outflow tracts were mainly examined during the scan. We used grayscale and color mapping in the diagnosis. Color Doppler was used if additional information was needed, and all patients were rescanned during the 2nd trimester to confirm or negate our diagnosis. Results The cardiac findings were normal at both scans in 3108 pregnancies. The same cardiac abnormality was detected at both scans in 79 cases. In 36 cases there was false-positive diagnosis at the early scan; in 20 of these cases, there were mildly abnormal functional findings early in pregnancy with no abnormality found later. In 17 fetuses, there was discordance between the early and later diagnosis due to missed or incorrect diagnoses. The best time to do fetal heart examination during 1st trimester is between 13 and 13 + 6 weeks. Conclusion A high degree of accuracy in the identification of congenital heart disease (CHD) can be achieved by a 1st trimester fetal echocardiography.

Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.

Biallelic variants in the NDE1 gene have been shown to occur in extreme microcephaly. Most of the patients displayed microlissencephaly but one with microhydranencephaly. We report on three sibs in which the brain MRI and CT scans demonstrated variable degree of reduced volume of cerebral hemispheres and ventriculomegaly. Further, they had agenesis of corpus callosum, cerebellar, and brainstem hypoplasia. Fetal ultrasound at 32 weeks' gestation of the third sib revealed severe micrencephaly with extensive hydranencephaly and an anomaly consistent with non cleaved (fused) thalami. Because of the fused thalami, the STIL gene was targeted initially but showed negative results. His postnatal MRI showed that the cerebral hemispheres are markedly reduced in size (with no definite frontal, parietal, or occipital lobes) and replaced by a large sac filled with CSF. An intact falx cerebri was identified. This extensive hydarencephaly led us to consider the NDE1 and to identify a novel homozygous nonsense variant (c.54G>A, p.W18*). The variability of the degree of brain malformations and the apparent fusion of the thalami were illusive and delayed the recognition of the genetic etiology. Our results provide the first antenatal description of this rare syndrome. Further, we expand the genetic architecture and the neuroradiologic phenotype of NDE1-related disorders.