CASE OF THE MONTH
Chromosomal Insights into Recurrent Pregnancy Loss: A Case of Trisomy 10
A couple with a history of three consecutive early pregnancy losses was evaluated, revealing a maternal chromosome 10 rearrangement linked to a Trisomy 10 finding in the current pregnancy loss .....
A Defining Variant in a Rare Metabolic Disorder: Familial Congenital Erythropoietic Porphyria
A couple with a 9-year-old affected male child diagnosed with Congenital Erythropoietic Porphyria (CEP) presented for prenatal genetic evaluation, with photosensitive skin rashes, dental dysplasia and reddish urine .....
Bridging Clinical Suspicion and Genetic Testing in the Diagnosis of Inherited Cardiovascular Disease
A patient presented with abdominal distension and pedal edema, with an initial clinical suspicion of Danon disease and a family history of sudden cardiac death, prompting inherited cardiac gene panel testing .....
Somatic Genomic Profiling in Breast Cancer – Insights Beyond Hereditary Testing
A 39-year-old woman presented with grade III invasive ductal carcinoma of the left breast and hypothyroidism. She underwent surgery followed by chemotherapy, with imaging showing no metabolic disease activity .....
A Multifactorial Approach to Recurrent Pregnancy Loss and Intrauterine Fetal Demise
A 30-year-old female presented after a missed abortion at 8 weeks' gestational age due to absent fetal cardiac activity, with a first-trimester pregnancy loss in a previous pregnancy .....
FGFR3-Related Thanatophoric Dysplasia Type II: A Fully Penetrant, De Novo Lethal Skeletal Dysplasia
A non-consanguineous couple with no family history of congenital anomalies experienced an adverse outcome in their first pregnancy, prompting molecular investigation .....
Recurrent Pregnancy Loss in a Consanguineous Couple – A Unifying Diagnosis of TREX1-Related Aicardi-Goutières Syndrome-1
A consanguineous couple in their early thirties presented with a history of recurrent pregnancy loss and multiple adverse pregnancy outcomes, resolved by whole exome sequencing .....
Whole Exome Sequencing Uncovers COG6-Associated CDG in Recurrent Adverse Pregnancies
A consanguineous couple presented with a difficult reproductive history marked by multiple unexplained adverse pregnancy outcomes, now at 12.6 weeks gestation following two earlier pregnancy losses .....