El-Dessouky, S. H., W. E. Sharaf-Eldin, M. M. Aboulghar, A. Ebrashy, S. M. Senousy, A. E. Elarab, H. M. Gaafar, M. I. Ateya, A. N. Abdelfattah, A. K. Saad, et al., "Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.", Prenatal diagnosis, vol. 45, issue 2, pp. 204-217, 2025 Feb. Abstract

OBJECTIVE: The purpose of this study was to improve our understanding of severe serine biosynthesis defects through a comprehensive description of prenatal, and postnatal manifestations and the mutational spectrum in a new cohort of 12 unrelated Egyptian Families.

METHODS: Detailed fetal ultrasound examination, postnatal assessment, and whole exome sequencing (WES) were performed in a cohort of 12 fetuses with suspected Neu-Laxova syndrome (NLS), the most severe expression of serine biosynthesis defects. Additionally, a comprehensive review of the literature was conducted by merging the data from all the molecularly-confirmed cases with ours to gain a better understanding of the clinical variability of NLS.

RESULTS: Novel clinical manifestations including intrauterine convulsions, hemivertebrae, natal teeth, holoprosencephaly, and rhombencephalosynapsis were observed. Molecular analysis identified 7 and 2 likely disease-causing variants in the PSAT1 and PHGDH genes, respectively. Four of them were novel, including the c.734G>A missense variant in PSAT1, which has been proposed to be a founder variant among Egyptians.

CONCLUSION: The present cohort expands the spectrum of serine biosynthesis disorders. Moreover, it illuminates the role of prenatal exome sequencing in lethal conditions constituting the most severe end of already-known human diseases.

Dakhly, D. M. R., H. M. Gaafar, M. M. Sediek, M. F. Ibrahim, and M. Momtaz, "Diagnostic value of the International Ovarian Tumor Analysis (IOTA) simple rules versus pattern recognition to differentiate between malignant and benign ovarian masses.", International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics, vol. 147, issue 3, pp. 344-349, 2019 Dec. Abstract

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.

El-Demiry, N. M., A. M. Maged, H. M. Gaafar, S. Elanwary, A. Shaltout, S. Ibrahim, H. M. El-Didy, and M. M. Elsherbini, "The value of fetal Doppler indices as predictors of perinatal outcome in women with preeclampsia with severe features.", Hypertension in pregnancy, vol. 39, issue 2, pp. 95-102, 2020 May. Abstract

: 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.: A prospective cohort study conducted on 60 women diagnosed  with preeclampsia with severe features divided into two groups based on adverse perinatal outcome.: 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.: CPR < 1 can be used to identify fetuses at risk of morbidity and mortality among such cases.

El-Dessouky, S. H., M. Y. Issa, M. M. Aboulghar, H. M. Gaafar, A. E. Elarab, M. I. Ateya, H. H. Omar, C. Beetz, and M. S. Zaki, "Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.", American journal of medical genetics. Part A, vol. 182, issue 12, pp. 2867-2876, 2020 Dec. Abstract

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.

El-Dessouky, S. H., W. E. Sharaf-Eldin, M. M. Aboulghar, H. A. Mousa, M. S. Zaki, R. Maroofian, S. M. Senousy, M. M. Eid, H. M. Gaafar, A. Ebrashy, et al., "Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.", Clinical genetics, vol. 108, issue 1, pp. 33-48, 2025 Jul. Abstract

To evaluate the diagnostic yield of prenatal exome sequencing (pES) in fetuses with structural anomalies detected by prenatal ultrasound in a consanguineous population. This was a prospective study of 244 anomalous fetuses from unrelated consanguineous Egyptian families. Detailed phenotyping was performed throughout pregnancy and postnatally, and pES data analysis was conducted. Genetic variants were prioritized based on the correlation of their corresponding human phenotype ontology terms with the ultrasound findings. Analyses were carried out to determine the diagnostic efficiency of pES and its correlation to the organ systems involved. The largest clinical category of fetuses referred for pES was those manifesting multisystem anomalies (104/244, 42.6%). pES provided a definitive diagnosis explaining the fetal anomalies in 47.1% (115/244) of the cases, with the identification of 122 pathogenic or likely pathogenic variants completely fitting with the phenotype. Variants of uncertain significance associated with the fetal phenotypes were detected in 84 fetuses (34%), while 18.44% (45/244) had negative results. Positive consanguinity is associated with a high diagnostic yield of ES. The novel variants and new fetal manifestations, described in our cohort, further expand the mutational and phenotypic spectrum of a wide variety of genetic disorders presenting with congenital malformations.

Ismail, F. F., H. M. Gaafar, M. M. Elsherbini, and A. Mousa, "Diagnostic accuracy of a specialized pro forma in assessing morbidly adherent placenta in correlation to intra-operative findings.", The journal of obstetrics and gynaecology research, vol. 51, issue 5, pp. e16314, 2025 May. Abstract

OBJECTIVES: To assess the clinical value of ultrasound criteria for the "Morbidly Adherent Placenta" (MAP) and the diagnostic accuracy of a customized "pro forma" in predicting MAP, its extent, and its relationship to intra-operative results.

METHODS: Twenty-one pregnant women with a high possibility of placenta accreta were included in the study. Gray scale transabdominal and transvaginal ultrasound with color Doppler were done to confirm the MAP diagnosis and evaluate the signs of placental invasion. The ultrasound findings were compared with the operative details to predict placental invasion (focal or diffuse) and vascularity of the lower uterine segment to assess the clinical significance of the customized "pro forma."

RESULTS: There was a good accuracy of ultrasound signs to detect the vascularity of the lower uterine segment with a sensitivity of 94.12%, specificity of 25%, positive predictive value (PPV) of 84.21%, negative predictive value (NPV) of 50%, and accuracy of 80.95%; however, it was insignificant (p = 0.352). Additionally, we found a good accuracy of ultrasound signs to detect the degree of placental invasion (focal or diffuse), with a sensitivity of 71.43%, specificity of 100%, PPV of 100%, NPV of 63.64%, and accuracy of 80.95%, which was significant (p = 0.004).

CONCLUSION: This customized "pro forma" has satisfactory accuracy in predicting MAP cases with anterior placenta previa or anterior low-lying placenta.

Abdel-Hamid, M. S., S. H. El-Dessouky, M. I. Ateya, H. M. Gaafar, and G. M. H. Abdel-Salam, "Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.", American journal of medical genetics. Part A, vol. 179, issue 3, pp. 494-497, 2019 Mar. Abstract

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.

Mousa, A., I. T. Elkhateb, H. M. Gaafar, M. M. Elsherbini, H. Mousa, M. Abdalla, A. Abdelbar, D. Rida, H. S. majd, and S. L. Collins, "Kasr Alainy simplified uterine preserving surgery for conservative management of placenta accreta spectrum (PAS): A modified surgical approach.", European journal of obstetrics, gynecology, and reproductive biology, vol. 284, pp. 150-161, 2023 May. Abstract

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.

El-Dessouky, S. H., M. M. Aboulghar, H. M. Gaafar, rana m abdella, M. F. Sharaf, M. I. Ateya, A. E. Elarab, W. H. Zidan, R. M. Helal, S. M. Aboelsaud, et al., "Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.", Prenatal diagnosis, vol. 40, issue 5, pp. 565-576, 2020 Apr. Abstract

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.

Soliman, M. Y., O. A. F. Idris, M. Momtaz, M. A. Kortam, M. A. ELNoury, H. A. Saleh, A. Abulnour, A. A. Ali, M. Abbas, O. M. Shaaban, et al., "Expert consensus on the role of supplementation in obstetrics and gynecology using modified delphi method.", Archives of gynecology and obstetrics, vol. 309, issue 2, pp. 639-650, 2024 Feb. Abstract

PURPOSE: To reach a consensus among obstetrics and gynecology experts on the effects of micronutrient supplementation on fertility and pregnancy to aid clinicians in decision-making and create a unified approach to managing micronutrient deficiencies in women, by performing a modified Delphi study.

METHODS: A three-round modified Delphi process was conducted among a Delphi panel of 38 Egyptian experts to define recommendations regarding the role of supplementation on fertility and pregnancy in women of reproductive age. A literature review was performed and supporting evidence was graded to help guide the recommendations based on available evidence.

RESULTS: A total of 62 statements were developed for discussion and voting. Out of the 62 statements, 60 statements reached expert consensus. Statements were divided into two domains. The first domain discussed the role of supplementation in fertility: optimizing natural fertility, polycystic ovary syndrome (PCOS), in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI), unexplained infertility, and endometriosis, whereas the second domain was concerned with the role of supplementation in pregnancy during the prenatal, antenatal, and postnatal periods.

CONCLUSION: In this work, a modified Delphi methodology was implemented to reach a consensus on the use of micronutrient supplementation in women of reproductive age. These recommendations can help clinicians in their practice, guide future research, and identify gaps in the market for the pharmaceutical industry. This clinical guidance can be extrapolated to similar communities.

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