**6. Congenital genital anomalies**

The spectrum of congenital genital malformation is very broad, and the diagnosis is usually difficult. A reliable classification reveals four main types of genital anomalies:


Fetal gender abnormality is diagnosed by ultrasound or by finding a discrepancy between fetal phenotype and sex chromosomes. The ultrasound diagnosis is late, usually accessible in the second or third trimesters [5, 20–24].

**I.** Male genital malformations

Due to improved ultrasound technology and increased experience in this area, the fetal sex can be established with high accuracy beyond 13 weeks of pregnancy [5]. Determination of fetal sex is based on the 'sagittal sign'. During the first trimester, in the sagittal plane, the penis is oriented upwards and the clitoris downwards. In the third trimester, the genitalia can be described with high accuracy [21].

Penian malformations (abnormal phallic structure)


The diagnosis of hypospadias with prenatal ultrasound is based on several important criteria:

**Figure 10.** Grade III hypospadias (perineal) is the most severe form, with the opening of the urethra at the penoscrotal

**Figure 9.** Isolated megacystis: the right-side image is the sagittal plane of the fetus and the CRL (crown-rump length) measurement; the left-side image (same case) is the pathological specimen after medical termination of pregnancy.

• A 'tulip' sign formed by the ventral-bent penis located between the two scrotal folds.

• Ventral deflection of the urinary stream which can be studied by color Doppler [20].

Renal pelvic dilatation is commonly seen during antenatal ultrasound examinations, and its management remains a clinical dilemma. Although it is proven that severe antenatal hydronephrosis requires postnatal clinical and ultrasound evaluation, there is no consensus on the

• A blunter bulbous tip to the penile shaft rather than the normal.

• Abnormal curvature of the penis.

300 Congenital Anomalies - From the Embryo to the Neonate

**5. Evolution and treatment**

• A short penile shaft.

junction.

**3.** Megalopenia or hyperplasia of the penis [1–3, 22]

Testicular malformations.

	- Anorchia (or anorchism): the absence of both testicles in the presence of a normal male phenotype (46XY)
	- Monorchism (or monorchidism): the absence of a testicle
	- Polyorchism: the presence of more than two testicles
	- Testicular fusion: the fusion of the two testicles in the same scrotum [2, 5, 20–24]
	- Microorchidism: small, hypoplastic testicles.
	- Macroorchidism may be secondary to contralateral testicular damage and may be bilateral in congenital syndromes (fragile X syndrome) or other disorders (hypophysis adenoma, aromatase deficiency).
	- Cystic dysplasia of the testicle: benign, congenital tumor, frequently associated with other testicular malformations [5, 20–24].

Classification:

• Extracanalicular:

expertise in this field [5].

**7.1. Ovarian cysts**

**7. Female genital malformations**

• Intraabdominal: above or at the internal inguinal opening

**Figure 12.** Unilateral cryptorchidism (in association with penian anomaly).

oblique muscle and subcutaneous or femoral, etc. [24].

• Intracanalicular: in the inguinal canal, between the inguinal inlet and the external groove

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• Suprapubian: just above the external inguinal opening above the pubic symphysis level

• Ectopic testis: migration is normal to the level of the inguinal external hole, but the testicle follows an abnormal tract. Possible localizations are between aponeurosis of external

It is recommended that information about the fetal abnormalities, postnatal and prenatal options of treatment and prognosis should be presented to the parents by a multidisciplinary team that includes neonatologists, urologists, perinatologists and medical geneticists with

Ovarian cysts are the most frequently abdominal tumors that may be seen in female fetuses and newborns. The incidence of fetal ovarian cysts has increased lately, due to the improvement

• Infrapubian: in retroscrotal space, inferior to pubic symphysis [1, 5] (**Figure 12**)

	- Cryptorchidism: the process of descensus testis is affected by anatomical and mechanical factors, such as a poor connection between the gubernaculum and testis and endocrine factors (**Figure 11**) [5, 22].

**Figure 11.** Hypospadias: the left-side image is the 'tulip sign' in 2D conventional ultrasound; the right-side image is a 3D reconstruction, surface rendering technique.

**Figure 12.** Unilateral cryptorchidism (in association with penian anomaly).
