RESUMEN
The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.
Asunto(s)
Anomalías Múltiples , Síndrome de DiGeorge , Cardiopatías Congénitas , Válvula Pulmonar , Recién Nacido , Embarazo , Femenino , Humanos , Síndrome de DiGeorge/complicaciones , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Aorta Torácica , Deleción Cromosómica , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/cirugía , Anomalías Múltiples/genéticaRESUMEN
The use of assisted reproductive technology has increased in Romania in the past several years. Although most of these pregnancies are uncomplicated, in vitro fertilization is associated with an increased risk for adverse perinatal outcomes primarily caused by the increased risks of prematurity, gestational diabetes mellitus, and hypertensive disorders. Infertility can be caused by a variety of factors, including both male and female factors, and in some cases, the cause remains unknown. In our clinic, the etiology of infertility was known in most cases and was equally distributed between male and female factors. Women with gestational hypertension were significantly older. Patients with twin pregnancies were significantly younger than those with a single pregnancy. The prevalence of preterm newborns was 2.5 times higher than the global prevalence for prematurity.
