**Author details**

birth of a child with a congenital anomaly [34]. However, PD is a voluntary decision of the couple who will decide if the suspected condition requires diagnosis testing or termination

The distinctiveness of PD consists in this one-sided decision of the pregnant woman whose sentence affects both herself and the unborn child; if a woman is able to make an independent and well-considered decision, she must have the necessary knowledge to act in the context that PD does not only give information about a potential termination of a pregnancy but also

For this purpose, pretesting counseling is vital, and it will determine not only the risk of the fetus being affected, but also the chances of it being normal, it will inform about the conditions that can be diagnosed and their consequences not only on the fetus but also on the care/ treatment options. Furthermore, it will also provide counseling regarding the limits of the test, the possibility of an irrelevant or unexpected result, and the couple's options after testing.

If a PD is established, the physician should discuss with the pregnant woman about all the possible aspects of the clinical features, including the heterogeneity of the clinical manifestations. The informed choice of the pregnant woman/couple in the diagnosis of a fetus with congenital malformations will be respected and protected without prejudice, giving importance and priority to the family and sociocultural background in which the couple and the future

In the case of PD without medical indication, when the testing is only based on pregnancy/ couple's anxiety, it will be done but with a low priority in allocating resources compared to PD associated with medical reasons. The practice of PD testing with the intention of selecting the child's sex (except for X-linked diseases) is not permitted, as well as the testing of pater-

Particularly, the evolution of technology with the implementation of NGS in PD complicates the ethical aspects because, although genetic diagnosis has been improved, the method has

**2.** Neither the severity of the clinical manifestations nor the progression of the disease can

**8.** The cost of the method is very expensive and not all the patients have financial resources.

some limitations, some of them common with those of the usual methods of PD [35]:

**4.** The results require a complex interpretation because the test provides a lot of data. **5.** No test is 100% safe; the safety is dependent on the disease and the used method.

it provides information that will prepare the parents for the birth of an affected child.

of the pregnancy.

462 Congenital Anomalies - From the Embryo to the Neonate

malformed child will spend their lives.

nity (excepting the pregnancy after an incest or rape) [34].

**1.** Diagnosing a disease for which there is no treatment.

**6.** Laboratory errors sometimes do occur.

always be predicted only by conducting a genetic test.

**3.** There are not yet genetic tests established for all genetic diseases.

**7.** Not all pathogenic variants could be detected and interpreted.

Mihaela Amelia Dobrescu\*, Florin Burada\*, Mihai Gabriel Cucu, Anca Lelia Riza, Gratiela Chelu, Razvan Mihail Plesea, Adela Cucu, Alina Liliana Cimpoeru and Mihai Ioana

\*Address all correspondence to: amelia\_dobrescu@yahoo.com and florinburada2000@yahoo.com

Medical Genetics Regional Center (CRGM), Dolj, Human Genomics Laboratory, University of Medicine and Pharmacy of Craiova, Craiova, Romania
