Severe congenital non-syndromic ichthyosis: ultrasound diagnosis of a prenatal case

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Giulia Garofalo ◽  
Marie Cassart ◽  
Julie Désir ◽  
Dominique Thomas
Keyword(s):  
Prenatal Diagnosis ◽  
Family History ◽  
Genetic Diagnosis ◽  
Ultrasound Diagnosis ◽  
Second Trimester ◽  
Fetal Ultrasound ◽  
Case Presentation ◽  
Sonographic Diagnosis ◽  
Congenital Ichthyosis ◽  
Prenatal Genetic Diagnosis

Abstract Background Prenatal diagnosis of congenital ichthyosis is still a challenge and very few cases of sonographic diagnosis have been described in the literature. Diagnosis by fetal ultrasound is made from the late second trimester and prenatal genetic diagnosis can be possible only if a proband is known. Case presentation We report the case of a prenatal diagnosis of severe non-syndromic ichthyosis in a primigravida woman with no personal or family history for this pathology. Conclusion Our case outlines prenatal sonographic signs suggestive of ichthyosis orienting genetic diagnosis.

Prenatal Genetic Diagnosis for Pediatricians

PEDIATRICS ◽  
1994 ◽  
Vol 93 (6) ◽  
pp. 1010-1015
Author(s):  
Keyword(s):  
Decision Making ◽  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Diagnostic Tests ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Decision Making Process ◽  
Know How ◽  
Prenatal Genetic Diagnosis ◽  
The Family

Pediatricians may be called upon to counsel a family in which prenatal diagnosis is being considered or in which there is a fetus with a genetic disorder. In some settings, the pediatrician may be the primary resource for counseling the family. More frequently, counseling may already have been provided by a clinical geneticist and/or obstetrician. However, because of a previous relationship with the family, the pediatrician may be called upon to review this information and to assist the family in the decision-making process. The pediatrician should be familiar with the principles of prenatal genetic diagnosis and know how to apply them to specific problems in genetic counseling, diagnosis, and management in clinical practice. At the same time, pediatricians should be familiar with resources available in their region for obtaining information about whether and how a specific disorder can be diagnosed and when and where to refer patients for prenatal genetic diagnosis. The technology of prenatal diagnosis is changing rapidly, and genetic consultants can assist pediatricians in the appropriate utilization and interpretation of the diagnostic tests that are available.

scholarly journals Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 185 ◽  
Author(s):  
Ma ◽  
Chen ◽  
Wu ◽  
Chang ◽  
Chang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Urinary Bladder ◽  
Autosomal Recessive ◽  
Second Trimester ◽  
Normal Kidney ◽  
Renal Tubular Dysgenesis ◽  
Fetal Ultrasound ◽  
Refractory Hypotension ◽  
Renal Tubular ◽  
Agt Gene

Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and lethal disorder that causes stillbirth or early neonatal death. Most of the reported cases are diagnosed postnatally by a histopathological hallmark of the absence or paucity of differentiated proximal tubules in kidneys. Prenatal diagnosis of ARRTD is challenging because only a few fetal features (e.g., oligohydramnios/anhydramnios, anuria) are associated with this condition. In this study, we report a fetus with ARRTD, which showed anhydramnios and invisible urinary bladder since the second trimester, followed by growth restriction and reversed end diastolic flow in the middle cerebral artery (MCA-REDF). No morphological anomaly was detected on the fetal kidneys during an ultrasound scan. The baby died of refractory hypotension the day after their birth. Genetic analysis of genes that are involved in the renin-angiotensin-aldosterone system (RAAS), which are the known genetic causes of ARRTD, identified a novel, biparental-origin homozygous c.857-619_1269+243delinsTTGCCTTGC mutation in the AGT gene. The mutation is considered as pathogenic because it is cosegregated with ARRTD and detected in other unrelated ARRTD families. Our findings link the fetal ultrasound manifestations to the ARRTD, highlighting clues that are useful for prenatal diagnosis, which warrants confirmatory genotyping of the RAAS genes including oligohydramnios/anhydramnios, anuria (absent filling of a fetal urinary bladder), MCA-REDF, and a morphologically normal kidney.

scholarly journals A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 272
Author(s):  
Gina Nam ◽  
Angela Cho ◽  
Mi-hye Park
Keyword(s):  
Pregnant Woman ◽  
Prenatal Diagnosis ◽  
Preterm Labor ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Bartter Syndrome ◽  
Case Presentation ◽  
Good Clinical Condition

Background: Antenatal Bartter syndrome is an autosomal recessive disorder causing severe polyuria that leads to severe polyhydramnios and preterm labor. Prenatal diagnosis of antenatal Bartter syndrome is difficult because the genetic diagnosis can only be confirmed following a clinical diagnosis in infants. Reports of prenatal diagnosis and treatment of antenatal Bartter syndrome are limited. Case Presentation: We present the case of a 33-year-old pregnant woman with refractory polyhydramnios at 31 weeks of gestation. There were no structural anomalies or placental problems on ultrasonography; therefore, antenatal Bartter syndrome was suspected. With repeated amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks of gestation. The clinical features of the infant and subsequent genetic testing confirmed the diagnosis of antenatal Bartter syndrome. The baby was in good clinical condition at the 3-month follow-up visit. Conclusions: For pregnant women with early onset and refractory severe polyhydramnios without morphological anomalies, antenatal Bartter syndrome should be highly suspected.

scholarly journals Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Paolo Toscano ◽  
Lavinia Di Meglio ◽  
Fortunato Lonardo ◽  
Letizia Di Meglio ◽  
Laura Letizia Mazzarelli ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Skeletal Dysplasia ◽  
Pediatric Population ◽  
Pathogenic Variant ◽  
Second Trimester ◽  
Case Presentation ◽  
Growth Defects ◽  
Pathogenic Variation ◽  
Sequence Variations

Abstract Background Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia. Case presentation A G1 at 21w + 3d came to our institution for the second-trimester ultrasound and a skeletal dysplasia with prevalent involvement of limb’s rhizomelic tracts was suspected. Amniocentesis followed by CGH-array was performed, with normal results. An examination by NGS of some genes associated with skeletal dysplasias showed a novel pathogenic variant of the ACAN gene: c.2677delG. Conclusion Sequence variations of ACAN were never described as a possible cause of fetal skeletal anomalies to date. In this case report, we describe the first prenatal diagnosis of skeletal dysplasia associated with a pathogenic variant of ACAN.

Prenatal diagnosis of pericardial lymphangioma in the second trimester of gestation: case report

2020 ◽  
Author(s):  
K.K. Otaryan , A.N. Chulkov , D.B. Shekhovtsov et all
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Histological Analysis ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Second Trimester

A case of prenatal ultrasound diagnosis of pericardial lymphangioma at 19+3 weeks of gestation is presented. Prenatal diagnosis verified on histological analysis.

scholarly journals Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Sayed AbdulAzeez ◽  
Nourah H. Al Qahtani ◽  
Noor B. Almandil ◽  
Amani M. Al-Amodi ◽  
Sumayh A. Aldakeel ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Prenatal Diagnosis ◽  
Family History ◽  
Pregnancy Termination ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Limiting Factors ◽  
Good Opportunity ◽  
Awareness Campaigns

AbstractThe prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis (n = 2761) to determine their practices toward reproductive-decision making. Regression analysis was conducted to identify the association of the limiting factors, relative merits and family history on the outcomes. Total of 2507 participants returned completed questionnaire. The practice towards PND (68%) were more favorable than TOP (33%). PND was found to be a good opportunity for early diagnosis and gives parent’s choice. Education, history with affected baby, prior knowledge and religious belief were significant deciding factors of PND and TOP. Down syndrome (n = 161) and sickle cell anemia (n = 152) were commonly available genetic disorder among participant’s family. Respondents with autistic cases in their family have higher acceptance rate for TOP. Non-consanguineous are more willing to consider TOP than consanguineous. Participants with abnormal fetus, aged of > 36 years, married and educated Saudis were more likely consider TOP. Though, religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently. Awareness campaigns about PND and TOP may increase the chances of accepting prenatal genetic diagnosis.

scholarly journals Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yi Zhou ◽  
Liang Li ◽  
Ling Wang ◽  
Chaoxue Zhang
Keyword(s):  
Prenatal Diagnosis ◽  
Family History ◽  
Literature Review ◽  
Prenatal Ultrasound ◽  
Third Trimester ◽  
Case Presentation ◽  
Image Characteristics ◽  
Harlequin Ichthyosis ◽  
2D Ultrasound ◽  
Missed Diagnoses

Abstract Background Harlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Due to the extremely poor prognosis, prenatal diagnosis becomes very important, especially for foetuses with no family history. There are few reports on prenatal diagnosis in PubMed. Case presentation We report two cases of HI with no family history who were diagnosed by prenatal ultrasound. We searched for reports on the prenatal ultrasonic diagnosis of HI over nearly two decades and summarized the sonographic features of HI, the reasons for missed diagnoses and matters needing attention. A total of 10 articles of congenital harlequin ichthyosis diagnosed by prenatal ultrasound in PubMed were retrieved. There have been even fewer reports of late-trimester disease with no family history. Combining the two cases we reported with the literature review, we summarize the ultrasonic image characteristics of HI. Conclusion HI can be easily detected by 2D ultrasound combined with 3D, but attention should be paid to a systematic examination in the third trimester of pregnancy according to the clinical characteristics of the disease.

scholarly journals Chromosomal Abnormality in Fetuses with Isolated Antenatal Hydronephrosis: Update for Prenatal Diagnosis and Genetic Counseling

2020 ◽  
Author(s):  
Xiaoyan Zhou ◽  
Yan Wang ◽  
Lulu Meng ◽  
Jianxin Tan ◽  
Fengchang Qiao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Detection Rates ◽  
Antenatal Hydronephrosis ◽  
Prenatal Genetic Diagnosis ◽  
Group A ◽  
Group B

Abstract Background: The prenatal finding of fetuses with antenatal hydronephrosis (ANH) gives a significant dilemma for the clinicians. Which patients require invasive prenatal diagnosis? Though previous literatures have recommended the use of chromosomal microarray analysis (CMA)for fetuses with CAKUT, the cutoff value for CMA have no current consensus on fetuses with ANH. In this article, we aimed to detect chromosomal abnormalities in fetuses with isolated severe ANH (anterior-posterior renal pelvic diameter (APRPD) ≥ 10mm) by CMA, summarized the literatures and proposed recommendations for the prenatal genetic diagnosis according to APRPD.Methods: Fetuses (n=84) with isolated severe ANH (APRPD ≥ 10mm) were evaluated by CMA. According to APRPD measurements at second trimester, we classified the cases into two groups: (1) Group A: cases with APRPD of 10–15 mm(N=57); (2) Group B: cases with APRPD ≥ 15 mm(N=27).The prenatal and postnatal outcomes were assessed by ultrasonic examination and telephone follow-up.Results: Overall, one case with 18 trisomy was identified. Clinically significant copy number variants (pathogenic or likely pathogenic CNVs) were identified in 11.9% (10/84) cases, including 3.5% (3/84) of pathogenic CNVs. The detection rates were 5.2% (3/57), 25.9% (7/27) for group A and group B, respectively. There was statistically significant differences in the frequency of clinic significant CNVs in the two groups (p＜0.05). Conclusion: CMA is valuable in prenatal genetic diagnosis of fetuses with severe ANH（APRPD ≥ 10mm）, regardless of whether other ultrasonic abnormalities were observed. This cohort should be followed up during the pregnancy.

scholarly journals The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China

2021 ◽  
Author(s):  
Shuang Hu ◽  
Lina Liu ◽  
Zhihui Jiao ◽  
Xiangdong Kong
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Genetic Diagnosis ◽  
Methylmalonic Aciduria ◽  
Compound Heterozygous ◽  
Chorionic Villus Sampling ◽  
Prenatal Genetic Diagnosis ◽  
Heterozygous Variant ◽  
Compound Heterozygous Variants

Abstract To investigate the phenotypes, biochemical features and genotypes for 244 pedigrees with methylmalonic aciduria (MMA) in China, and to perform the prenatal genetic diagnosis by chorionic villus for these pedigrees. Gene analyses were performed for 244 pedigrees. There are 130 families, chorionic villus sampling was performed on the pregnant women to conduct the prenatal diagnosis. Among 244 patients, 168 (68.9%) cases were combined methylmalonic aciduria and homocystinuria, 76 (31.1%) cases were isolated methymalonic aciduria. All the patients were diagnosed with MMA by their clinical manifestation, elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and/or urine/blood methylmalonic acid with or without hyperhomocysteinemia. MMACHC, MUT, SUCLG1 and LMBRD1 gene variants were found in 236 (96.7%) pedigrees included 6 probands with only one heterozygous variant out of 244 cases. For the 130 pedigrees who received a prenatal diagnosis, 22 foetuses were normal, 69 foetuses were carriers of heterozygous variants, and the remaining 39 foetuses harboured compound heterozygous variants or homozygous variants. The follow-up results were consistent with the prenatal diagnosis. The present study indicates genetic heterogeneity in MMA patients. Genetic analysis is a convenient method for prenatal diagnosis that will aid in avoiding the delivery of MMA patients.

Sign in / Sign up

Export Citation Format

Share Document