Prenatal screening and counseling for genetic disorders.
BACKGROUND
The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal Diagnosis Center of AOU Federico II and we discuss the role of the screening for beta-thalassemia (BT), cystic fibrosis (CF) and for other rare genetic disorders.


METHODS
We analyzed retrospectively the indication for Prenatal Diagnosis (PD) of all the couples referred to our center from January 1993 to May 2013. We divided our sample into three groups: couples at high risk for BT, for CF and for other rare genetic disorders.


RESULTS
From January 1993 to May 2013, we performed 1269 PD for genetic disorders. There are still couples who discovered to be carriers of BT by screening after the birth of the affected child (n = 51 (11,3%)); the majority of the people were screened for CF carrier after the birth of an affected child (n = 155 (80,7%)) or through the cascade screening (n = 28 (14,6%)). Large-scale screenings for rare genetic conditions are not available and people were screened only if they have a positive familial history.


CONCLUSIONS
Parental screening is available for many severe and rare diseases whose genetic origin is known. The proportion of patients referred for very high-risk indications increased over time with an higher demand for rare disease. An adequate counseling is fundamental to identify women at risk for having affected child. Screening, counseling and PD of genetic diseases is a complex matter and needs for a continuous update.
Department of Neurosciences, Reproductive and Dentistry Sciences , Naples , Italy and.
Giuseppe Maria
GM
Maruotti
Laura
L
Sarno
Stefania
S
Simioli
Giuseppe
G
Castaldo
Pasquale
P
Martinelli
D000328:Adult; D003376:Counseling / Q000706:statistics & numerical data; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology; D005191:Family Characteristics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data; D015995:Prevalence; D012189:Retrospective Studies; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology