Publications by authors named "Sara El-Dessouky"

8 Publications

  • Page 1 of 1

Peak systolic velocity of fetal middle cerebral artery to predict anemia in Red Cell Alloimmunization in un-transfused and transfused fetuses.

Eur J Obstet Gynecol Reprod Biol 2021 Mar 29;258:437-442. Epub 2021 Jan 29.

Fetal Medicine Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Cairo University, Cairo, Egypt; Department of Obstetrics & Gynecology, Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address:

Objective: To assess the accuracy of middle cerebral artery peak systolic velocity (MCA-PSV) in prediction of severe fetal anemia resulting from Red Cell Alloimmunization (Anti-D) in un-transfused and transfused fetuses. In addition to comparing the accuracy of MCA-PSV and the estimation of the daily decline of fetal hemoglobin (Hb), to determine the appropriate time of subsequent transfusions.

Study Design: This was a retrospective study of a series of 84 anaemic fetuses due to Red Cell alloimmunization. During each in-utero transfusion session, measurements of (1)MCA-PSV, (2)pre- and (3)post-transfusion Hb levels were recorded. Receiveroperating characteristics (ROC) curves, negative and positive predictive values of MCA-PSV in predicting severe fetal anemia were calculated. Regression analysis assesses the correlation between fetal HB and MCA-PSV, and between observed and expected fetal hemoglobin levels.

Results: Eighty four anemic fetuses were included in the study and had an in-utero transfusion. The positive predictive value (PPV) of MCAPSV decreased sharply from 86.0 % at the first IUT, to 52.0 % and 52.1 % at the second and third IUTs respectively. According to the ROC curves, setting the cut-off at 1.70 MoM would provide the best performance of MCA-PSV with respect to the timing of the second and third IUT. Setting a higher threshold of 1.70 MoM for the 2nd and 3rd transfusions would increase the PPV from 52.0 % to 96.4 % at the second IUT, and from 52.1%-99.8 % at the third IUT.

Conclusion: In this study we suggest that a higher MCA-PSV (MoM 1.7 in compared to 1.5MOM) can accurately predict the recurrence of severe fetal anemia requiring serial IUTs. In transfused fetuses, MCAPSV accuracy to detect severe anemia decline slightly with increase number of IUT. In addition to that, the mean projected daily decrease in fetal hemoglobin has a similar accuracy to MCA-PSV in predicting moderate to severe fetal anemia.
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http://dx.doi.org/10.1016/j.ejogrb.2021.01.046DOI Listing
March 2021

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

Am J Med Genet A 2020 12 10;182(12):2867-2876. Epub 2020 Sep 10.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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.
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http://dx.doi.org/10.1002/ajmg.a.61858DOI Listing
December 2020

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

Prenat Diagn 2020 12 14;40(12):1578-1597. Epub 2020 Sep 14.

Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

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.
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http://dx.doi.org/10.1002/pd.5818DOI Listing
December 2020

Response to letter from Okoye JO and Ngokere AA "Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?"

Prenat Diagn 2020 12 13;40(12):1618-1619. Epub 2020 Aug 13.

Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/pd.5804DOI Listing
December 2020

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.

Prenat Diagn 2020 04 10;40(5):565-576. Epub 2020 Feb 10.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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.
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http://dx.doi.org/10.1002/pd.5649DOI Listing
April 2020

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

J Perinat Med 2019 Oct;47(8):871-878

Fetal Medicine Unit, Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.

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.
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http://dx.doi.org/10.1515/jpm-2019-0222DOI Listing
October 2019

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

Am J Med Genet A 2019 03 13;179(3):494-497. Epub 2019 Jan 13.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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.
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http://dx.doi.org/10.1002/ajmg.a.61035DOI Listing
March 2019

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

Am J Med Genet A 2018 05;176(5):1190-1194

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

We report two unrelated boys with frontonasal dysplasias type-2 (FND-2) who shared an identical novel homozygous ALX4 mutation c.291delG (p.Q98Sfs*83). Both patients presented with a large skull defect but one had bilateral parietal meningocele-like cysts that lie along with the bony defect and increased in size with age. Scalp alopecia, hypertelorism, and clefted alae nasi were also detected in both of them. Furthermore, impalpable gonads were noted, being unilateral in one and bilateral in the other. Neuroimaging showed small dysplastic occipital lobes with dysgyria and midline subarachnoid cyst. Additional dysplastic corpus callosum and small cerebellar vermis were observed in one patient. Parietal foramina were noted in the parents of one patient. Our findings highlight the dosage effect of ALX4 and underscore the challenges of prenatal genetic counseling. Further, the indirect role of ALX4 in the development of the occipital lobe and posterior fossa is discussed.
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http://dx.doi.org/10.1002/ajmg.a.38655DOI Listing
May 2018