Background: DiGeorge syndrome (also known as velo-cardio-facial syndrome) is a rare multisystem genetic disorder occurring in approximately 1 in 4000 to 1 in 6000 live births [1]. Although advances in genetic screenin...Background: DiGeorge syndrome (also known as velo-cardio-facial syndrome) is a rare multisystem genetic disorder occurring in approximately 1 in 4000 to 1 in 6000 live births [1]. Although advances in genetic screening have improved diagnosis in developed countries, the condition remains underdiagnosed in developing nations such as the Republic of Moldova, where access to genetic testing and family planning services is limited. Routine prenatal screening usually includes regular ultrasounds, monitoring of blood pressure, complete blood counts, coagulation studies, glucose, urine protein, and urine culture. Current ultrasound techniques have limitations in detecting this syndrome due to variability in interpretation, and genetic testing is often performed based on clinical discretion. The ultrasound could potentially point towards a genetic problem, as in DiGeorge, if multiple cardiac malformations are spotted in utero, but most cases such as this one are diagnosed after birth while being described as totally normal on prenatal ultrasound. Purpose: This study aims to highlight the diagnostic challenges and the need for comprehensive evaluation in identifying DiGeorge syndrome, emphasizing the importance of considering the syndrome as a whole rather than focusing on isolated organ system issues. Method: We present a case report of a 6-month-old girl who, after an uneventful pregnancy and normal prenatal ultrasound, presented with cardiac insufficiency. Following extensive investigations and multiple surgical interventions, DiGeorge syndrome was diagnosed at 9 months of age. Results: The patient’s diagnosis was delayed due to the lack of prenatal markers and the reliance on separate investigations of affected organ systems. Despite several interventions aimed at managing her symptoms, the final diagnosis was made after observing the association of multiple clinical features and conducting comprehensive genetic testing. Conclusions: This case underscores the importance of a holistic approach to diagnosis, which involves a thorough patient history, integration of diverse diagnostic tests, and recognition of the syndrome’s multi-system nature. It highlights the necessity for improved diagnostic protocols and increased awareness in regions with limited access to advanced genetic testing to prevent delays in identifying DiGeorge syndrome and to facilitate timely and appropriate management.展开更多
Background A study of prenatal genetic diagnosis for 22q11.2 microdeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence...Background A study of prenatal genetic diagnosis for 22q11.2 microdeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization （FISH） technique and to investigate the feasibility of use of amniocytes to diagnose 22q11 .2 microdeletion syndrome prenatally. Methods The study enrolled 23 cases of fetal cardiac malformation, as indicated by ultrasound in Beijing Anzhen Hospital and 14 cases of non-cardiac malformation, as determined by type-B ultrasound in Beijing Anzhen Hospital and other hospitals. Amniotic fluid was obtained by amniocentesis before odinopoeia, and the stillborn fetuses of the induced labor were preceded to autopsy. The amniotic fluid of 20 cesarean deliveries during the same period of time was used as a control. The TUPLE1 gene in the amniotic fluid of malformed and normal fetuses was assessed by the FISH method. Results The prevalence rates of the TUPLE1 gene deletion in the amniotic fluid cells from fetuses with cardiac deformations and fetuses without such malformations were 43.5% and 57.1%, respectively. The deletion of TUPLE1 was significantly associated with fetal malformation. Conclusion Chromosome 22q11.2 microdeletion is one of the major factors leading to fetal congenital malformations, and prenatal FISH screening for 22q11 .2 microdeletion syndrome is technically feasible using amniocytes.展开更多
文摘Background: DiGeorge syndrome (also known as velo-cardio-facial syndrome) is a rare multisystem genetic disorder occurring in approximately 1 in 4000 to 1 in 6000 live births [1]. Although advances in genetic screening have improved diagnosis in developed countries, the condition remains underdiagnosed in developing nations such as the Republic of Moldova, where access to genetic testing and family planning services is limited. Routine prenatal screening usually includes regular ultrasounds, monitoring of blood pressure, complete blood counts, coagulation studies, glucose, urine protein, and urine culture. Current ultrasound techniques have limitations in detecting this syndrome due to variability in interpretation, and genetic testing is often performed based on clinical discretion. The ultrasound could potentially point towards a genetic problem, as in DiGeorge, if multiple cardiac malformations are spotted in utero, but most cases such as this one are diagnosed after birth while being described as totally normal on prenatal ultrasound. Purpose: This study aims to highlight the diagnostic challenges and the need for comprehensive evaluation in identifying DiGeorge syndrome, emphasizing the importance of considering the syndrome as a whole rather than focusing on isolated organ system issues. Method: We present a case report of a 6-month-old girl who, after an uneventful pregnancy and normal prenatal ultrasound, presented with cardiac insufficiency. Following extensive investigations and multiple surgical interventions, DiGeorge syndrome was diagnosed at 9 months of age. Results: The patient’s diagnosis was delayed due to the lack of prenatal markers and the reliance on separate investigations of affected organ systems. Despite several interventions aimed at managing her symptoms, the final diagnosis was made after observing the association of multiple clinical features and conducting comprehensive genetic testing. Conclusions: This case underscores the importance of a holistic approach to diagnosis, which involves a thorough patient history, integration of diverse diagnostic tests, and recognition of the syndrome’s multi-system nature. It highlights the necessity for improved diagnostic protocols and increased awareness in regions with limited access to advanced genetic testing to prevent delays in identifying DiGeorge syndrome and to facilitate timely and appropriate management.
文摘Background A study of prenatal genetic diagnosis for 22q11.2 microdeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization （FISH） technique and to investigate the feasibility of use of amniocytes to diagnose 22q11 .2 microdeletion syndrome prenatally. Methods The study enrolled 23 cases of fetal cardiac malformation, as indicated by ultrasound in Beijing Anzhen Hospital and 14 cases of non-cardiac malformation, as determined by type-B ultrasound in Beijing Anzhen Hospital and other hospitals. Amniotic fluid was obtained by amniocentesis before odinopoeia, and the stillborn fetuses of the induced labor were preceded to autopsy. The amniotic fluid of 20 cesarean deliveries during the same period of time was used as a control. The TUPLE1 gene in the amniotic fluid of malformed and normal fetuses was assessed by the FISH method. Results The prevalence rates of the TUPLE1 gene deletion in the amniotic fluid cells from fetuses with cardiac deformations and fetuses without such malformations were 43.5% and 57.1%, respectively. The deletion of TUPLE1 was significantly associated with fetal malformation. Conclusion Chromosome 22q11.2 microdeletion is one of the major factors leading to fetal congenital malformations, and prenatal FISH screening for 22q11 .2 microdeletion syndrome is technically feasible using amniocytes.
