**9. Conclusion**

*Congenital Anomalies in Newborn Infants - Clinical and Etiopathological Perspectives*

counselling process [73].

When a diagnosis is established from genetic investigations, then the family can be provided with information regarding the clinical manifestations and natural history, mode of inheritance, medical management recommendations, if any, recurrence risk for future pregnancies, implications to their other children/other family members, as well as information regarding appropriate patient support groups. Cultural differences need to be respected and taken into consideration during the

In some cases, a DSD is diagnosed incidentally during pregnancy, with no previous family history. This could be following the finding of fetal abnormal external genitalia or finding of discrepancy between the phenotypic sex as determined by fetal ultrasound and the genotypic sex as determined by chorionic villus sampling, amniocentesis or non-invasive prenatal testing (NIPT) done for other reasons. The differential diagnosis for the cases detected incidentally is broad but it should be kept in mind that in a 46,XX fetus, the most likely diagnosis is congenital adrenal hyperplasia. In a 46,XY fetus, the differential diagnosis includes a variety of conditions including androgen insensitivity syndrome, 46,XY gonadal dysgenesis and testosterone biosynthesis defects, when no other abnormalities are identified. When other abnormalities are detected, such as on ultrasound, more rare conditions such as campomelic dysplasia and Smith-Lemli-Opitz syndrome should be considered [74]. Following prenatal diagnosis of a DSD the family may choose to continue with the pregnancy with no further investigations, they may decide to terminate the pregnancy based on the information provided or they may decide to further investigate the etiology of the abnormalities identified. Prior to this however, the genetics health care team should facilitates a discussion with the family outlining each option with the pros/cons of each, including what to expect from a procedure, if applicable, as well as the impact on puberty and fertility and the potential psychosocial perspective. This information is important to allow an informed decision to be made in keeping with their value and belief system. The family should be made aware that the genetics health care team will support whatever decision they make. In situations where the family decides to terminate the pregnancy and the etiology of the condition is not known, the benefits of a fetal

autopsy and molecular analysis should be reviewed with the family.

preimplantation genetic diagnosis.

donor gametes, donor embryos or adoption.

4.Pre-implantation genetic diagnosis (PGD).

genetic relative/carrier of the condition.

continuing or terminating an affected pregnancy.

Genetic counselling should be made available to couples who are planning to have more children, following the birth of a child with DSD. The provision of genetic counselling in these cases, in addition to providing psychosocial support, includes information regarding their recurrence risk and their available reproductive

1.Accepting the risk of having another affected child and have no prenatal/

3.Conceive naturally and have pre-natal diagnosis with the option of either

Patients with DSD may be infertile. For these patients, conception using donor gametes and/or surrogate mother may be possible and should be discussed. However, to lower the recurrence risk, when applicable, the donor should not be a

2.Deciding not to have any more biological children and choosing instead to use

**76**

options:

Normal sex development includes determination of chromosome sex, gonadal sex, development of internal and external genitalia as well as the psychosocial sex. This is a complex process involving genetic and non-genetics components, many of them are yet unknown. Disorder of sex development is an etiologically a heterogenous group of disorders with a major lifelong impact on the patients and their families.

In view of the complexity of these group of patients they should be seen by a DSD team including but not limited to pediatric endocrinologist, pediatric urologist, medical geneticist, genetic counsellor, psychologist/psychiatrist and social worker and the findings and current knowledge should be presented to the parents so that they can make an informed decision regarding the gender, when appropriate. The child with DSD should continue be followed into puberty and adulthood to achieve optimal treatment, psychosocial well-being, sexual satisfaction, and fertility in view of the patients gender role and identity [75].
